Canonical Allele Identifier: CA395729683
Gene: VKORC1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.31091251G>A , CM000678.2:g.31091251G>A GRCh38
NC_000016.9:g.31102572G>A , CM000678.1:g.31102572G>A GRCh37
NC_000016.8:g.31010073G>A NCBI36
NG_011564.1:g.8705C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000394975.3:c.375C>T MANE Select ENSP00000378426.2:p.Phe125=
ENST00000300851.10:c.436C>T ENSP00000300851.6:p.Leu146Phe
ENST00000319788.11:c.457C>T ENSP00000326135.7:p.Leu153Phe
ENST00000354895.4:c.265C>T ENSP00000346969.4:p.Leu89Phe
ENST00000394971.7:c.469C>T ENSP00000378422.3:p.Leu157Phe
ENST00000394975.2:c.375C>T ENSP00000378426.2:p.Phe125=
ENST00000420057.2:c.337C>T
ENST00000472468.1:c.60C>T ENSP00000458994.1:p.Phe20=
ENST00000498155.1:c.472C>T ENSP00000417662.1:p.Leu158Phe
ENST00000529564.1:c.283+2061C>T ENSP00000431371.1:n.283+2061C>T
ENST00000532364.1:c.173+3306C>T ENSP00000460316.1:n.173+3306C>T
ENST00000533518.5:c.248C>T
NM_001311311.1:c.459C>T NP_001298240.1:p.Phe153=
NM_024006.4:c.375C>T NP_076869.1:p.Phe125=
NM_024006.5:c.375C>T NP_076869.1:p.Phe125=
NM_206824.1:c.265C>T NP_996560.1:p.Leu89Phe
NM_206824.2:c.265C>T NP_996560.1:p.Leu89Phe
XM_011545944.1:c.375C>T XP_011544246.1:p.Phe125=
XM_011545945.1:c.265C>T XP_011544247.1:p.Leu89Phe
XR_950848.1:n.1163C>T
NM_024006.6:c.375C>T MANE Select NP_076869.1:p.Phe125=
NM_001311311.2:c.459C>T NP_001298240.1:p.Phe153=
NM_206824.3:c.265C>T NP_996560.1:p.Leu89Phe