Canonical Allele Identifier: CA344795908

Gene: FLVCR1

Linked Data

• dbSNP Id: rs1434320705
• gnomAD v2: 1-213032167-T-A
• gnomAD v4: 1-212858825-T-A
• MyVariant Identifiers: chr1:g.213032167T>A (hg19) ; chr1:g.212858825T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.212858825T>A , CM000663.2:g.212858825T>A	GRCh38
NC_000001.10:g.213032167T>A , CM000663.1:g.213032167T>A	GRCh37
NC_000001.9:g.211098790T>A	NCBI36
NG_028131.1:g.5571T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366971.9:c.373T>A MANE Select	ENSP00000355938.4:p.Trp125Arg
ENST00000366971.8:c.373T>A	ENSP00000355938.4:p.Trp125Arg
NM_014053.3:c.373T>A	NP_054772.1:p.Trp125Arg
XM_011509446.1:c.373T>A	XP_011507748.1:p.Trp125Arg
XM_011509447.1:c.373T>A	XP_011507749.1:p.Trp125Arg
XM_011509448.1:c.373T>A	XP_011507750.1:p.Trp125Arg
XR_247024.1:n.547T>A
XR_426771.1:n.547T>A
XR_426772.2:n.547T>A
XR_921769.1:n.547T>A
XM_011509446.3:c.373T>A	XP_011507748.1:p.Trp125Arg
XM_011509447.2:c.373T>A	XP_011507749.1:p.Trp125Arg
XR_247024.3:n.547T>A
XR_426772.3:n.547T>A
NM_014053.4:c.373T>A MANE Select	NP_054772.1:p.Trp125Arg