Canonical Allele Identifier: CA126494
Gene: FGA HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 16410
ClinVar RCV Id: RCV000017871
dbSNP Id: rs121909612

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.154585795T>A , CM000666.2:g.154585795T>A GRCh38
NC_000004.10:g.155726397T>A NCBI36
NC_000004.11:g.155506947T>A , CM000666.1:g.155506947T>A GRCh37
NG_008832.1:g.9951A>T , LRG_557:g.9951A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000302053.7:c.1634A>T ENSP00000306361.3:p.Glu545Val
ENST00000403106.7:c.1634A>T ENSP00000385981.3:p.Glu545Val
ENST00000622532.1:c.644-85A>T ENSP00000478487.1:p.=
NM_000508.3:c.1634A>T , LRG_557t1:c.1634A>T NP_000499.1:p.Glu545Val
NM_021871.2:c.1634A>T , LRG_557t2:c.1634A>T NP_068657.1:p.Glu545Val