Canonical Allele Identifier: CA344792196

Gene: FLVCR1

Linked Data

• gnomAD v4: 1-212883386-C-T
• MyVariant Identifiers: chr1:g.213056728C>T (hg19) ; chr1:g.212883386C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.212883386C>T , CM000663.2:g.212883386C>T	GRCh38
NC_000001.10:g.213056728C>T , CM000663.1:g.213056728C>T	GRCh37
NC_000001.9:g.211123351C>T	NCBI36
NG_028131.1:g.30132C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366971.9:c.1040C>T MANE Select	ENSP00000355938.4:p.Ala347Val
ENST00000366971.8:c.1040C>T	ENSP00000355938.4:p.Ala347Val
ENST00000419102.1:c.436C>T
ENST00000474693.1:n.265C>T
NM_014053.3:c.1040C>T	NP_054772.1:p.Ala347Val
XM_011509446.1:c.1040C>T	XP_011507748.1:p.Ala347Val
XR_247024.1:n.1214C>T
XR_426771.1:n.1341C>T
XM_011509446.3:c.1040C>T	XP_011507748.1:p.Ala347Val
XR_247024.3:n.1214C>T
NM_014053.4:c.1040C>T MANE Select	NP_054772.1:p.Ala347Val