Canonical Allele Identifier: CA130224

Gene: FGA

Linked Data

• ClinVar Variation Id: 16404
• ClinVar RCV Id: RCV000030941 ; RCV000851581 ; RCV000851971 ; RCV001509236 ; RCV002228034 ; RCV002476987 ; RCV004532379
• dbSNP Id: rs121909607
• ExAC: 4:155510665 C / T
• gnomAD v2: 4-155510665-C-T
• gnomAD v3: 4-154589513-C-T
• gnomAD v4: 4-154589513-C-T
• COSMIC: COSM218791 ; COSM4945872
• MyVariant Identifiers: chr4:g.155510665C>T (hg19) ; chr4:g.154589513C>T (hg38)
• PubMed: PMID:3345340 ; PMID:3590111 ; PMID:3618591 ; PMID:3726812 ; PMID:4052020 ; PMID:6191801 ; PMID:7298640 ; PMID:8140431

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.154589513C>T , CM000666.2:g.154589513C>T	GRCh38
NC_000004.11:g.155510665C>T , CM000666.1:g.155510665C>T	GRCh37
NC_000004.10:g.155730115C>T	NCBI36
NG_008832.1:g.6233G>A , LRG_557:g.6233G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651975.2:c.104G>A	ENSP00000498441.1:p.Arg35His
ENST00000403106.8:c.104G>A MANE Select	ENSP00000385981.3:p.Arg35His
ENST00000651975.1:c.104G>A	ENSP00000498441.1:p.Arg35His
ENST00000302053.7:c.104G>A	ENSP00000306361.3:p.Arg35His
ENST00000403106.7:c.104G>A	ENSP00000385981.3:p.Arg35His
ENST00000622532.1:c.104G>A	ENSP00000478487.1:p.Arg35His
NM_000508.3:c.104G>A , LRG_557t1:c.104G>A	NP_000499.1:p.Arg35His
NM_021871.2:c.104G>A , LRG_557t2:c.104G>A	NP_068657.1:p.Arg35His
NM_000508.4:c.104G>A	NP_000499.1:p.Arg35His
NM_021871.3:c.104G>A	NP_068657.1:p.Arg35His
NM_021871.4:c.104G>A MANE Select	NP_068657.1:p.Arg35His
NM_000508.5:c.104G>A	NP_000499.1:p.Arg35His