Canonical Allele Identifier: CA3115087

Gene: FGA

Linked Data

• ClinVar Variation Id: 347811
• ClinVar RCV Id: RCV000296696 ; RCV000334967 ; RCV001702008 ; RCV002520212
• dbSNP Id: rs200378626
• ExAC: 4:155507164 C / T
• gnomAD v2: 4-155507164-C-T
• gnomAD v3: 4-154586012-C-T
• gnomAD v4: 4-154586012-C-T
• MyVariant Identifiers: chr4:g.155507164C>T (hg19) ; chr4:g.154586012C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.154586012C>T , CM000666.2:g.154586012C>T	GRCh38
NC_000004.11:g.155507164C>T , CM000666.1:g.155507164C>T	GRCh37
NC_000004.10:g.155726614C>T	NCBI36
NG_008832.1:g.9734G>A , LRG_557:g.9734G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651975.2:c.1417G>A	ENSP00000498441.1:p.Asp473Asn
ENST00000403106.8:c.1417G>A MANE Select	ENSP00000385981.3:p.Asp473Asn
ENST00000651975.1:c.1417G>A	ENSP00000498441.1:p.Asp473Asn
ENST00000302053.7:c.1417G>A	ENSP00000306361.3:p.Asp473Asn
ENST00000403106.7:c.1417G>A	ENSP00000385981.3:p.Asp473Asn
ENST00000622532.1:c.644-302G>A	ENSP00000478487.1:n.644-302G>A
NM_000508.3:c.1417G>A , LRG_557t1:c.1417G>A	NP_000499.1:p.Asp473Asn
NM_021871.2:c.1417G>A , LRG_557t2:c.1417G>A	NP_068657.1:p.Asp473Asn
NM_000508.4:c.1417G>A	NP_000499.1:p.Asp473Asn
NM_021871.3:c.1417G>A	NP_068657.1:p.Asp473Asn
NM_021871.4:c.1417G>A MANE Select	NP_068657.1:p.Asp473Asn
NM_000508.5:c.1417G>A	NP_000499.1:p.Asp473Asn