Canonical Allele Identifier: CA3115289
Gene: FGA HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.154587520G>A
GRCh37 chr4:g.155508672G>A
gnomAD v2:
4:155508672 G / A
gnomAD v3:
4:154587520 G / A
gnomAD v4:
chr4-154587520-G-A
Joint Max Group AF 0.00001107 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00001012 (NFE)
ClinVar Allele:
389197
ClinVar RCV:
RCV000454272
RCV001380954
RCV002502594
ClinVar Variation:
402230
dbSNP:
755117226
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.154587520G>A , CM000666.2:g.154587520G>A GRCh38
NC_000004.11:g.155508672G>A , CM000666.1:g.155508672G>A GRCh37
NC_000004.10:g.155728122G>A NCBI36
NG_008832.1:g.8226C>T , LRG_557:g.8226C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000651975.2:c.502C>T ENSP00000498441.1:p.Arg168Ter
ENST00000403106.8:c.502C>T MANE Select ENSP00000385981.3:p.Arg168Ter
ENST00000651975.1:c.502C>T ENSP00000498441.1:p.Arg168Ter
ENST00000302053.7:c.502C>T ENSP00000306361.3:p.Arg168Ter
ENST00000403106.7:c.502C>T ENSP00000385981.3:p.Arg168Ter
ENST00000622532.1:c.502C>T ENSP00000478487.1:p.Arg168Ter
NM_000508.3:c.502C>T , LRG_557t1:c.502C>T NP_000499.1:p.Arg168Ter
NM_021871.2:c.502C>T , LRG_557t2:c.502C>T NP_068657.1:p.Arg168Ter
NM_000508.4:c.502C>T NP_000499.1:p.Arg168Ter
NM_021871.3:c.502C>T NP_068657.1:p.Arg168Ter
NM_021871.4:c.502C>T MANE Select NP_068657.1:p.Arg168Ter
NM_000508.5:c.502C>T NP_000499.1:p.Arg168Ter
Search 100 bp 5'
Search 100 bp 3'