Canonical Allele Identifier: CA344792233

Gene: FLVCR1

Linked Data

• gnomAD v4: 1-212883404-C-A
• MyVariant Identifiers: chr1:g.213056746C>A (hg19) ; chr1:g.212883404C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.212883404C>A , CM000663.2:g.212883404C>A	GRCh38
NC_000001.10:g.213056746C>A , CM000663.1:g.213056746C>A	GRCh37
NC_000001.9:g.211123369C>A	NCBI36
NG_028131.1:g.30150C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366971.9:c.1058C>A MANE Select	ENSP00000355938.4:p.Thr353Lys
ENST00000366971.8:c.1058C>A	ENSP00000355938.4:p.Thr353Lys
ENST00000419102.1:c.454C>A
ENST00000474693.1:n.283C>A
NM_014053.3:c.1058C>A	NP_054772.1:p.Thr353Lys
XM_011509446.1:c.1058C>A	XP_011507748.1:p.Thr353Lys
XR_247024.1:n.1232C>A
XR_426771.1:n.1359C>A
XM_011509446.3:c.1058C>A	XP_011507748.1:p.Thr353Lys
XR_247024.3:n.1232C>A
NM_014053.4:c.1058C>A MANE Select	NP_054772.1:p.Thr353Lys