Canonical Allele Identifier: CA344791936

Gene: FLVCR1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.212872765C>A , CM000663.2:g.212872765C>A	GRCh38
NC_000001.10:g.213046107C>A , CM000663.1:g.213046107C>A	GRCh37
NC_000001.9:g.211112730C>A	NCBI36
NG_028131.1:g.19511C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_014053.4:c.971C>A MANE Select	NP_054772.1:p.Ser324Ter
ENST00000366971.9:c.971C>A MANE Select	ENSP00000355938.4:p.Ser324Ter
NM_014053.3:c.971C>A	NP_054772.1:p.Ser324Ter
ENST00000366971.8:c.971C>A	ENSP00000355938.4:p.Ser324Ter
ENST00000419102.1:c.420+8896C>A
ENST00000474693.1:n.196C>A
XM_011509446.1:c.971C>A	XP_011507748.1:p.Ser324Ter
XM_011509446.3:c.971C>A	XP_011507748.1:p.Ser324Ter
XM_011509447.1:c.*115C>A	XP_011507749.1:n.*115C>A
XM_011509447.2:c.*115C>A	XP_011507749.1:n.*115C>A
XR_247024.1:n.1145C>A
XR_247024.3:n.1145C>A
XR_426771.1:n.1272C>A
XR_426772.2:n.1260C>A
XR_426772.3:n.1260C>A