Canonical Allele Identifier: CA126494
Gene: FGA HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.154585795T>A
GRCh37 chr4:g.155506947T>A
Revel Score:
ENST00000302053 0.213
ENST00000403106 (MANE Select) 0.213
gnomAD v2:
4:155506947 T / A
gnomAD v3:
4:154585795 T / A
gnomAD v4:
chr4-154585795-T-A
Joint Max Group AF 0.00001376 (NFE)
Exomes Max Group AF 0.00001377 (NFE)
ClinVar Allele:
31449
ClinVar RCV:
RCV000017871
RCV002490381
RCV003480033
ClinVar Variation:
16410
dbSNP:
121909612
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000651975.2:c.1634A>T ENSP00000498441.1:p.Glu545Val
ENST00000403106.8:c.1634A>T MANE Select ENSP00000385981.3:p.Glu545Val
ENST00000651975.1:c.1634A>T ENSP00000498441.1:p.Glu545Val
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:n.644-85A>T
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
NM_000508.4:c.1634A>T NP_000499.1:p.Glu545Val
NM_021871.3:c.1634A>T NP_068657.1:p.Glu545Val
NM_021871.4:c.1634A>T MANE Select NP_068657.1:p.Glu545Val
NM_000508.5:c.1634A>T NP_000499.1:p.Glu545Val
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