Canonical Allele Identifier: CA126498

Gene: FGA

Linked Data

• ClinVar Variation Id: 16411
• ClinVar RCV Id: RCV000017872 ; RCV002222001 ; RCV002490382
• dbSNP Id: rs121909613
• MyVariant Identifiers: chr4:g.155506864G>A (hg19) ; chr4:g.154585712G>A (hg38)
• PubMed: PMID:8636415 ; PMID:16362348

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.154585712G>A , CM000666.2:g.154585712G>A	GRCh38
NC_000004.11:g.155506864G>A , CM000666.1:g.155506864G>A	GRCh37
NC_000004.10:g.155726314G>A	NCBI36
NG_008832.1:g.10034C>T , LRG_557:g.10034C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651975.2:c.1717C>T	ENSP00000498441.1:p.Arg573Cys
ENST00000403106.8:c.1717C>T MANE Select	ENSP00000385981.3:p.Arg573Cys
ENST00000651975.1:c.1717C>T	ENSP00000498441.1:p.Arg573Cys
ENST00000302053.7:c.1717C>T	ENSP00000306361.3:p.Arg573Cys
ENST00000403106.7:c.1717C>T	ENSP00000385981.3:p.Arg573Cys
ENST00000622532.1:c.644-2C>T	ENSP00000478487.1:n.644-2C>T
NM_000508.3:c.1717C>T , LRG_557t1:c.1717C>T	NP_000499.1:p.Arg573Cys
NM_021871.2:c.1717C>T , LRG_557t2:c.1717C>T	NP_068657.1:p.Arg573Cys
NM_000508.4:c.1717C>T	NP_000499.1:p.Arg573Cys
NM_021871.3:c.1717C>T	NP_068657.1:p.Arg573Cys
NM_021871.4:c.1717C>T MANE Select	NP_068657.1:p.Arg573Cys
NM_000508.5:c.1717C>T	NP_000499.1:p.Arg573Cys