Canonical Allele Identifier: CA1012017943

Gene: FLVCR1

Linked Data

• dbSNP Id: rs946805892
• gnomAD v3: 1-212883162-C-A
• gnomAD v4: 1-212883162-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.212883162C>A , CM000663.2:g.212883162C>A	GRCh38
NC_000001.10:g.213056504C>A , CM000663.1:g.213056504C>A	GRCh37
NC_000001.9:g.211123127C>A	NCBI36
NG_028131.1:g.29908C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366971.9:c.1025-209C>A MANE Select	ENSP00000355938.4:n.1025-209C>A
ENST00000366971.8:c.1025-209C>A	ENSP00000355938.4:n.1025-209C>A
ENST00000419102.1:c.421-209C>A
ENST00000474693.1:n.250-209C>A
NM_014053.3:c.1025-209C>A	NP_054772.1:n.1025-209C>A
XM_011509446.1:c.1025-209C>A	XP_011507748.1:n.1025-209C>A
XR_247024.1:n.1199-209C>A
XR_426771.1:n.1326-209C>A
XM_011509446.3:c.1025-209C>A	XP_011507748.1:n.1025-209C>A
XR_247024.3:n.1199-209C>A
NM_014053.4:c.1025-209C>A MANE Select	NP_054772.1:n.1025-209C>A