Canonical Allele Identifier: CA395729749
Gene: VKORC1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.31091266C>A , CM000678.2:g.31091266C>A GRCh38
NC_000016.9:g.31102587C>A , CM000678.1:g.31102587C>A GRCh37
NC_000016.8:g.31010088C>A NCBI36
NG_011564.1:g.8690G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000394975.3:c.360G>T MANE Select ENSP00000378426.2:p.Leu120=
ENST00000300851.10:c.421G>T ENSP00000300851.6:p.Gly141Cys
ENST00000319788.11:c.442G>T ENSP00000326135.7:p.Gly148Cys
ENST00000354895.4:c.250G>T ENSP00000346969.4:p.Gly84Cys
ENST00000394971.7:c.454G>T ENSP00000378422.3:p.Gly152Cys
ENST00000394975.2:c.360G>T ENSP00000378426.2:p.Leu120=
ENST00000420057.2:c.322G>T
ENST00000472468.1:c.45G>T ENSP00000458994.1:p.Leu15=
ENST00000498155.1:c.457G>T ENSP00000417662.1:p.Gly153Cys
ENST00000529564.1:c.283+2046G>T ENSP00000431371.1:n.283+2046G>T
ENST00000532364.1:c.173+3291G>T ENSP00000460316.1:n.173+3291G>T
ENST00000533518.5:c.233G>T
NM_001311311.1:c.444G>T NP_001298240.1:p.Leu148=
NM_024006.4:c.360G>T NP_076869.1:p.Leu120=
NM_024006.5:c.360G>T NP_076869.1:p.Leu120=
NM_206824.1:c.250G>T NP_996560.1:p.Gly84Cys
NM_206824.2:c.250G>T NP_996560.1:p.Gly84Cys
XM_011545944.1:c.360G>T XP_011544246.1:p.Leu120=
XM_011545945.1:c.250G>T XP_011544247.1:p.Gly84Cys
XR_950848.1:n.1148G>T
NM_024006.6:c.360G>T MANE Select NP_076869.1:p.Leu120=
NM_001311311.2:c.444G>T NP_001298240.1:p.Leu148=
NM_206824.3:c.250G>T NP_996560.1:p.Gly84Cys