Canonical Allele Identifier: CA115241

Gene: FLVCR1

Linked Data

• ClinVar Variation Id: 18419
• ClinVar RCV Id: RCV000001934 ; RCV001851962
• dbSNP Id: rs267606819
• gnomAD v4: 1-212859173-G-A
• MyVariant Identifiers: chr1:g.213032515G>A (hg19) ; chr1:g.212859173G>A (hg38)
• PubMed: PMID:9855554 ; PMID:21070897

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.212859173G>A , CM000663.2:g.212859173G>A	GRCh38
NC_000001.10:g.213032515G>A , CM000663.1:g.213032515G>A	GRCh37
NC_000001.9:g.211099138G>A	NCBI36
NG_028131.1:g.5919G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366971.9:c.721G>A MANE Select	ENSP00000355938.4:p.Ala241Thr
ENST00000366971.8:c.721G>A	ENSP00000355938.4:p.Ala241Thr
ENST00000419102.1:c.258G>A
NM_014053.3:c.721G>A	NP_054772.1:p.Ala241Thr
XM_011509446.1:c.721G>A	XP_011507748.1:p.Ala241Thr
XM_011509447.1:c.721G>A	XP_011507749.1:p.Ala241Thr
XM_011509448.1:c.721G>A	XP_011507750.1:p.Ala241Thr
XR_247024.1:n.895G>A
XR_426771.1:n.895G>A
XR_426772.2:n.895G>A
XR_921769.1:n.895G>A
XM_011509446.3:c.721G>A	XP_011507748.1:p.Ala241Thr
XM_011509447.2:c.721G>A	XP_011507749.1:p.Ala241Thr
XR_247024.3:n.895G>A
XR_426772.3:n.895G>A
NM_014053.4:c.721G>A MANE Select	NP_054772.1:p.Ala241Thr