Canonical Allele Identifier: CA395729809
Gene: VKORC1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.31091278A>T , CM000678.2:g.31091278A>T GRCh38
NC_000016.9:g.31102599A>T , CM000678.1:g.31102599A>T GRCh37
NC_000016.8:g.31010100A>T NCBI36
NG_011564.1:g.8678T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000394975.3:c.348T>A MANE Select ENSP00000378426.2:p.Gly116=
ENST00000300851.10:c.409T>A ENSP00000300851.6:p.Phe137Ile
ENST00000319788.11:c.430T>A ENSP00000326135.7:p.Phe144Ile
ENST00000354895.4:c.238T>A ENSP00000346969.4:p.Phe80Ile
ENST00000394971.7:c.442T>A ENSP00000378422.3:p.Phe148Ile
ENST00000394975.2:c.348T>A ENSP00000378426.2:p.Gly116=
ENST00000420057.2:c.310T>A
ENST00000472468.1:c.33T>A ENSP00000458994.1:p.Gly11=
ENST00000498155.1:c.445T>A ENSP00000417662.1:p.Phe149Ile
ENST00000529564.1:c.283+2034T>A ENSP00000431371.1:n.283+2034T>A
ENST00000532364.1:c.173+3279T>A ENSP00000460316.1:n.173+3279T>A
ENST00000533518.5:c.221T>A
NM_001311311.1:c.432T>A NP_001298240.1:p.Gly144=
NM_024006.4:c.348T>A NP_076869.1:p.Gly116=
NM_024006.5:c.348T>A NP_076869.1:p.Gly116=
NM_206824.1:c.238T>A NP_996560.1:p.Phe80Ile
NM_206824.2:c.238T>A NP_996560.1:p.Phe80Ile
XM_011545944.1:c.348T>A XP_011544246.1:p.Gly116=
XM_011545945.1:c.238T>A XP_011544247.1:p.Phe80Ile
XR_950848.1:n.1136T>A
NM_024006.6:c.348T>A MANE Select NP_076869.1:p.Gly116=
NM_001311311.2:c.432T>A NP_001298240.1:p.Gly144=
NM_206824.3:c.238T>A NP_996560.1:p.Phe80Ile