Canonical Allele Identifier: CA344795898

Gene: FLVCR1

Linked Data

• ClinVar Variation Id: 999892
• ClinVar RCV Id: RCV001295944 ; RCV002543043
• dbSNP Id: rs1189460003
• gnomAD v4: 1-212858821-T-A
• MyVariant Identifiers: chr1:g.213032163T>A (hg19) ; chr1:g.212858821T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.212858821T>A , CM000663.2:g.212858821T>A	GRCh38
NC_000001.10:g.213032163T>A , CM000663.1:g.213032163T>A	GRCh37
NC_000001.9:g.211098786T>A	NCBI36
NG_028131.1:g.5567T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366971.9:c.369T>A MANE Select	ENSP00000355938.4:p.Phe123Leu
ENST00000366971.8:c.369T>A	ENSP00000355938.4:p.Phe123Leu
NM_014053.3:c.369T>A	NP_054772.1:p.Phe123Leu
XM_011509446.1:c.369T>A	XP_011507748.1:p.Phe123Leu
XM_011509447.1:c.369T>A	XP_011507749.1:p.Phe123Leu
XM_011509448.1:c.369T>A	XP_011507750.1:p.Phe123Leu
XR_247024.1:n.543T>A
XR_426771.1:n.543T>A
XR_426772.2:n.543T>A
XR_921769.1:n.543T>A
XM_011509446.3:c.369T>A	XP_011507748.1:p.Phe123Leu
XM_011509447.2:c.369T>A	XP_011507749.1:p.Phe123Leu
XR_247024.3:n.543T>A
XR_426772.3:n.543T>A
NM_014053.4:c.369T>A MANE Select	NP_054772.1:p.Phe123Leu