Canonical Allele Identifier: CA8021125

Gene: VKORC1

Linked Data

• dbSNP Id: rs200313404
• ExAC: 16:31102569 G / A
• gnomAD v2: 16-31102569-G-A
• gnomAD v3: 16-31091248-G-A
• gnomAD v4: 16-31091248-G-A
• MyVariant Identifiers: chr16:g.31102569G>A (hg19) ; chr16:g.31091248G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31091248G>A , CM000678.2:g.31091248G>A	GRCh38
NC_000016.9:g.31102569G>A , CM000678.1:g.31102569G>A	GRCh37
NC_000016.8:g.31010070G>A	NCBI36
NG_011564.1:g.8708C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000394975.3:c.378C>T MANE Select	ENSP00000378426.2:p.Phe126=
ENST00000300851.10:c.439C>T	ENSP00000300851.6:p.Arg147Cys
ENST00000319788.11:c.460C>T	ENSP00000326135.7:p.Arg154Cys
ENST00000354895.4:c.268C>T	ENSP00000346969.4:p.Arg90Cys
ENST00000394971.7:c.472C>T	ENSP00000378422.3:p.Arg158Cys
ENST00000394975.2:c.378C>T	ENSP00000378426.2:p.Phe126=
ENST00000420057.2:c.340C>T
ENST00000472468.1:c.63C>T	ENSP00000458994.1:p.Phe21=
ENST00000498155.1:c.475C>T	ENSP00000417662.1:p.Arg159Cys
ENST00000529564.1:c.283+2064C>T	ENSP00000431371.1:n.283+2064C>T
ENST00000532364.1:c.173+3309C>T	ENSP00000460316.1:n.173+3309C>T
ENST00000533518.5:c.251C>T
NM_001311311.1:c.462C>T	NP_001298240.1:p.Phe154=
NM_024006.4:c.378C>T	NP_076869.1:p.Phe126=
NM_024006.5:c.378C>T	NP_076869.1:p.Phe126=
NM_206824.1:c.268C>T	NP_996560.1:p.Arg90Cys
NM_206824.2:c.268C>T	NP_996560.1:p.Arg90Cys
XM_011545944.1:c.378C>T	XP_011544246.1:p.Phe126=
XM_011545945.1:c.268C>T	XP_011544247.1:p.Arg90Cys
XR_950848.1:n.1166C>T
NM_024006.6:c.378C>T MANE Select	NP_076869.1:p.Phe126=
NM_001311311.2:c.462C>T	NP_001298240.1:p.Phe154=
NM_206824.3:c.268C>T	NP_996560.1:p.Arg90Cys