Canonical Allele Identifier: CA115413
Gene: VKORC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2208
ClinVar RCV Id: RCV000002292
dbSNP Id: rs104894540

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.31094596A>G , CM000678.2:g.31094596A>G GRCh38
NC_000016.9:g.31105917A>G , CM000678.1:g.31105917A>G GRCh37
NC_000016.8:g.31013418A>G NCBI36
NG_011564.1:g.5360T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000394975.3:c.134T>C MANE Select ENSP00000378426.2:p.Val45Ala
ENST00000300851.10:c.134T>C ENSP00000300851.6:p.Val45Ala
ENST00000319788.11:c.134T>C ENSP00000326135.7:p.Val45Ala
ENST00000354895.4:c.134T>C ENSP00000346969.4:p.Val45Ala
ENST00000394975.2:c.134T>C ENSP00000378426.2:p.Val45Ala
ENST00000420057.2:n.245+793T>C
ENST00000498155.1:c.270+793T>C ENSP00000417662.1:p.=
ENST00000529564.1:c.134T>C ENSP00000431371.1:p.Val45Ala
ENST00000532364.1:c.134T>C ENSP00000460316.1:p.Val45Ala
ENST00000533518.5:n.7T>C
NM_001311311.1:c.134T>C NP_001298240.1:p.Val45Ala
NM_024006.4:c.134T>C NP_076869.1:p.Val45Ala
NM_024006.5:c.134T>C NP_076869.1:p.Val45Ala
NM_206824.1:c.134T>C NP_996560.1:p.Val45Ala
NM_206824.2:c.134T>C NP_996560.1:p.Val45Ala
XM_011545944.1:c.134T>C XP_011544246.1:p.Val45Ala
XM_011545945.1:c.134T>C XP_011544247.1:p.Val45Ala
XR_950848.1:n.922T>C
NM_024006.6:c.134T>C MANE Select NP_076869.1:p.Val45Ala
NM_001311311.2:c.134T>C NP_001298240.1:p.Val45Ala
NM_206824.3:c.134T>C NP_996560.1:p.Val45Ala