Canonical Allele Identifier: CA1386223
Gene: FLVCR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 447349
dbSNP Id: rs144226457

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.212895241A>G , CM000663.2:g.212895241A>G GRCh38
NC_000001.10:g.213068583A>G , CM000663.1:g.213068583A>G GRCh37
NC_000001.9:g.211135206A>G NCBI36
NG_028131.1:g.41987A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000366971.9:c.1619A>G MANE Select ENSP00000355938.4:p.Gln540Arg
ENST00000366971.8:c.1619A>G ENSP00000355938.4:p.Gln540Arg
ENST00000419102.1:c.1015A>G
ENST00000483790.1:n.446A>G
NM_014053.3:c.1619A>G NP_054772.1:p.Gln540Arg
XM_011509446.1:c.1508A>G XP_011507748.1:p.Gln503Arg
XR_247024.1:n.1793A>G
XM_011509446.3:c.1508A>G XP_011507748.1:p.Gln503Arg
XR_247024.3:n.1793A>G
NM_014053.4:c.1619A>G MANE Select NP_054772.1:p.Gln540Arg