Canonical Allele Identifier: CA395729779
Gene: VKORC1 HGNC NCBI

Linked Data

dbSNP Id: rs2057287607

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.31091272G>C , CM000678.2:g.31091272G>C GRCh38
NC_000016.9:g.31102593G>C , CM000678.1:g.31102593G>C GRCh37
NC_000016.8:g.31010094G>C NCBI36
NG_011564.1:g.8684C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000394975.3:c.354C>G MANE Select ENSP00000378426.2:p.Val118=
ENST00000300851.10:c.415C>G ENSP00000300851.6:p.Leu139Val
ENST00000319788.11:c.436C>G ENSP00000326135.7:p.Leu146Val
ENST00000354895.4:c.244C>G ENSP00000346969.4:p.Leu82Val
ENST00000394971.7:c.448C>G ENSP00000378422.3:p.Leu150Val
ENST00000394975.2:c.354C>G ENSP00000378426.2:p.Val118=
ENST00000420057.2:c.316C>G
ENST00000472468.1:c.39C>G ENSP00000458994.1:p.Val13=
ENST00000498155.1:c.451C>G ENSP00000417662.1:p.Leu151Val
ENST00000529564.1:c.283+2040C>G ENSP00000431371.1:n.283+2040C>G
ENST00000532364.1:c.173+3285C>G ENSP00000460316.1:n.173+3285C>G
ENST00000533518.5:c.227C>G
NM_001311311.1:c.438C>G NP_001298240.1:p.Val146=
NM_024006.4:c.354C>G NP_076869.1:p.Val118=
NM_024006.5:c.354C>G NP_076869.1:p.Val118=
NM_206824.1:c.244C>G NP_996560.1:p.Leu82Val
NM_206824.2:c.244C>G NP_996560.1:p.Leu82Val
XM_011545944.1:c.354C>G XP_011544246.1:p.Val118=
XM_011545945.1:c.244C>G XP_011544247.1:p.Leu82Val
XR_950848.1:n.1142C>G
NM_024006.6:c.354C>G MANE Select NP_076869.1:p.Val118=
NM_001311311.2:c.438C>G NP_001298240.1:p.Val146=
NM_206824.3:c.244C>G NP_996560.1:p.Leu82Val