Canonical Allele Identifier: CA344792272

Gene: FLVCR1

Linked Data

• MyVariant Identifiers: chr1:g.213056763A>C (hg19) ; chr1:g.212883421A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.212883421A>C , CM000663.2:g.212883421A>C	GRCh38
NC_000001.10:g.213056763A>C , CM000663.1:g.213056763A>C	GRCh37
NC_000001.9:g.211123386A>C	NCBI36
NG_028131.1:g.30167A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366971.9:c.1075A>C MANE Select	ENSP00000355938.4:p.Ile359Leu
ENST00000366971.8:c.1075A>C	ENSP00000355938.4:p.Ile359Leu
ENST00000419102.1:c.471A>C
ENST00000474693.1:n.300A>C
ENST00000483790.1:n.13A>C
NM_014053.3:c.1075A>C	NP_054772.1:p.Ile359Leu
XM_011509446.1:c.1075A>C	XP_011507748.1:p.Ile359Leu
XR_247024.1:n.1249A>C
XR_426771.1:n.1376A>C
XM_011509446.3:c.1075A>C	XP_011507748.1:p.Ile359Leu
XR_247024.3:n.1249A>C
NM_014053.4:c.1075A>C MANE Select	NP_054772.1:p.Ile359Leu