Canonical Allele Identifier: CA344795904

Gene: FLVCR1

Linked Data

• dbSNP Id: rs1376169334
• gnomAD v2: 1-213032165-A-G
• gnomAD v3: 1-212858823-A-G
• gnomAD v4: 1-212858823-A-G
• MyVariant Identifiers: chr1:g.213032165A>G (hg19) ; chr1:g.212858823A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.212858823A>G , CM000663.2:g.212858823A>G	GRCh38
NC_000001.10:g.213032165A>G , CM000663.1:g.213032165A>G	GRCh37
NC_000001.9:g.211098788A>G	NCBI36
NG_028131.1:g.5569A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366971.9:c.371A>G MANE Select	ENSP00000355938.4:p.Gln124Arg
ENST00000366971.8:c.371A>G	ENSP00000355938.4:p.Gln124Arg
NM_014053.3:c.371A>G	NP_054772.1:p.Gln124Arg
XM_011509446.1:c.371A>G	XP_011507748.1:p.Gln124Arg
XM_011509447.1:c.371A>G	XP_011507749.1:p.Gln124Arg
XM_011509448.1:c.371A>G	XP_011507750.1:p.Gln124Arg
XR_247024.1:n.545A>G
XR_426771.1:n.545A>G
XR_426772.2:n.545A>G
XR_921769.1:n.545A>G
XM_011509446.3:c.371A>G	XP_011507748.1:p.Gln124Arg
XM_011509447.2:c.371A>G	XP_011507749.1:p.Gln124Arg
XR_247024.3:n.545A>G
XR_426772.3:n.545A>G
NM_014053.4:c.371A>G MANE Select	NP_054772.1:p.Gln124Arg