This variant has been flagged

Variation has more than 3 different alleles

Original source

Variants (including SNPs and indels) imported from dbSNP (release 144)|View in dbSNP

Alleles
C/A/G/T|Ancestral: C|Ambiguity code: N
Location

Chromosome 4:1004286 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM990749, CM013755

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 6458

HGVS names

This variant has 18 HGVS names - Hide

Variant allele A
4:g.1004286C>A
ENST00000514224.1:c.1459C>A
ENST00000514224.1:c.1459C>A(p.=)
ENST00000514698.5:n.1966C>A
ENST00000247933.8:c.1855C>A
ENST00000247933.8:c.1855C>A(p.=)

Variant allele T
4:g.1004286C>T
ENST00000514224.1:c.1459C>T
ENSP00000425081.1:p.Arg487Ter
ENST00000514698.5:n.1966C>T
ENST00000247933.8:c.1855C>T
ENSP00000247933.4:p.Arg619Ter

Variant allele G
4:g.1004286C>G
ENST00000514224.1:c.1459C>G
ENSP00000425081.1:p.Arg487Gly
ENST00000514698.5:n.1966C>G
ENST00000247933.8:c.1855C>G
ENSP00000247933.4:p.Arg619Gly

About this variant

This variant overlaps 33 transcripts and is associated with 2 phenotypes.

Variant displays