Canonical Allele Identifier: CA126515

Gene: FGA

Linked Data

• ClinVar Variation Id: 16420
• ClinVar RCV Id: RCV000017882 ; RCV000338448 ; RCV000246757 ; RCV000405212 ; RCV001509235
• dbSNP Id: rs6050
• ExAC: 4:155507590 T / C
• gnomAD v2: 4-155507590-T-C
• gnomAD v3: 4-154586438-T-C
• gnomAD v4: 4-154586438-T-C
• MyVariant Identifiers: chr4:g.155507590T>C (hg19) ; chr4:g.154586438T>C (hg38)
• PubMed: PMID:10318664 ; PMID:10910940

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.154586438T>C , CM000666.2:g.154586438T>C	GRCh38
NC_000004.11:g.155507590T>C , CM000666.1:g.155507590T>C	GRCh37
NC_000004.10:g.155727040T>C	NCBI36
NG_008832.1:g.9308A>G , LRG_557:g.9308A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651975.2:c.991A>G	ENSP00000498441.1:p.Thr331Ala
ENST00000403106.8:c.991A>G MANE Select	ENSP00000385981.3:p.Thr331Ala
ENST00000651975.1:c.991A>G	ENSP00000498441.1:p.Thr331Ala
ENST00000302053.7:c.991A>G	ENSP00000306361.3:p.Thr331Ala
ENST00000403106.7:c.991A>G	ENSP00000385981.3:p.Thr331Ala
ENST00000622532.1:c.643+348A>G	ENSP00000478487.1:n.643+348A>G
NM_000508.3:c.991A>G , LRG_557t1:c.991A>G	NP_000499.1:p.Thr331Ala
NM_021871.2:c.991A>G , LRG_557t2:c.991A>G	NP_068657.1:p.Thr331Ala
NM_000508.4:c.991A>G	NP_000499.1:p.Thr331Ala
NM_021871.3:c.991A>G	NP_068657.1:p.Thr331Ala
NM_021871.4:c.991A>G MANE Select	NP_068657.1:p.Thr331Ala
NM_000508.5:c.991A>G	NP_000499.1:p.Thr331Ala