Canonical Allele Identifier: CA344797672
Community Standard Title: NM_014053.4(FLVCR1):c.730G>A (p.Gly244Ser)
Gene: FLVCR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.212859182G>A , CM000663.2:g.212859182G>A GRCh38
NC_000001.10:g.213032524G>A , CM000663.1:g.213032524G>A GRCh37
NC_000001.9:g.211099147G>A NCBI36
NG_028131.1:g.5928G>A

Transcript Alleles

HGVS Amino-acid Change
NM_014053.4:c.730G>A MANE Select NP_054772.1:p.Gly244Ser
ENST00000366971.9:c.730G>A MANE Select ENSP00000355938.4:p.Gly244Ser
NM_014053.3:c.730G>A NP_054772.1:p.Gly244Ser
ENST00000366971.8:c.730G>A ENSP00000355938.4:p.Gly244Ser
ENST00000419102.1:c.267G>A
XM_011509446.1:c.730G>A XP_011507748.1:p.Gly244Ser
XM_011509446.3:c.730G>A XP_011507748.1:p.Gly244Ser
XM_011509447.1:c.730G>A XP_011507749.1:p.Gly244Ser
XM_011509447.2:c.730G>A XP_011507749.1:p.Gly244Ser
XM_011509448.1:c.730G>A XP_011507750.1:p.Gly244Ser
XR_247024.1:n.904G>A
XR_247024.3:n.904G>A
XR_426771.1:n.904G>A
XR_426772.2:n.904G>A
XR_426772.3:n.904G>A
XR_921769.1:n.904G>A