Canonical Allele Identifier: CA395729784
Gene: VKORC1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.31091273A>T , CM000678.2:g.31091273A>T GRCh38
NC_000016.9:g.31102594A>T , CM000678.1:g.31102594A>T GRCh37
NC_000016.8:g.31010095A>T NCBI36
NG_011564.1:g.8683T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000394975.3:c.353T>A MANE Select ENSP00000378426.2:p.Val118Asp
ENST00000300851.10:c.414T>A ENSP00000300851.6:p.Cys138Ter
ENST00000319788.11:c.435T>A ENSP00000326135.7:p.Cys145Ter
ENST00000354895.4:c.243T>A ENSP00000346969.4:p.Cys81Ter
ENST00000394971.7:c.447T>A ENSP00000378422.3:p.Cys149Ter
ENST00000394975.2:c.353T>A ENSP00000378426.2:p.Val118Asp
ENST00000420057.2:c.315T>A
ENST00000472468.1:c.38T>A ENSP00000458994.1:p.Val13Asp
ENST00000498155.1:c.450T>A ENSP00000417662.1:p.Cys150Ter
ENST00000529564.1:c.283+2039T>A ENSP00000431371.1:n.283+2039T>A
ENST00000532364.1:c.173+3284T>A ENSP00000460316.1:n.173+3284T>A
ENST00000533518.5:c.226T>A
NM_001311311.1:c.437T>A NP_001298240.1:p.Val146Asp
NM_024006.4:c.353T>A NP_076869.1:p.Val118Asp
NM_024006.5:c.353T>A NP_076869.1:p.Val118Asp
NM_206824.1:c.243T>A NP_996560.1:p.Cys81Ter
NM_206824.2:c.243T>A NP_996560.1:p.Cys81Ter
XM_011545944.1:c.353T>A XP_011544246.1:p.Val118Asp
XM_011545945.1:c.243T>A XP_011544247.1:p.Cys81Ter
XR_950848.1:n.1141T>A
NM_024006.6:c.353T>A MANE Select NP_076869.1:p.Val118Asp
NM_001311311.2:c.437T>A NP_001298240.1:p.Val146Asp
NM_206824.3:c.243T>A NP_996560.1:p.Cys81Ter