Canonical Allele Identifier: CA8021117

Gene: VKORC1

Linked Data

• dbSNP Id: rs763337263
• ExAC: 16:31102514 G / A
• MyVariant Identifiers: chr16:g.31102514G>A (hg19) ; chr16:g.31091193G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31091193G>A , CM000678.2:g.31091193G>A	GRCh38
NC_000016.9:g.31102514G>A , CM000678.1:g.31102514G>A	GRCh37
NC_000016.8:g.31010015G>A	NCBI36
NG_011564.1:g.8763C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394975.3:c.433C>T MANE Select	ENSP00000378426.2:p.Leu145=
ENST00000300851.10:c.*44C>T	ENSP00000300851.6:n.*44C>T
ENST00000319788.11:c.*44C>T	ENSP00000326135.7:n.*44C>T
ENST00000354895.4:c.*44C>T	ENSP00000346969.4:n.*44C>T
ENST00000394971.7:c.*44C>T	ENSP00000378422.3:n.*44C>T
ENST00000394975.2:c.433C>T	ENSP00000378426.2:p.Leu145=
ENST00000420057.2:c.395C>T
ENST00000472468.1:c.118C>T	ENSP00000458994.1:p.Leu40=
ENST00000498155.1:c.*44C>T	ENSP00000417662.1:n.*44C>T
ENST00000529564.1:c.283+2119C>T	ENSP00000431371.1:n.283+2119C>T
ENST00000532364.1:c.173+3364C>T	ENSP00000460316.1:n.173+3364C>T
ENST00000533518.5:c.306C>T
NM_001311311.1:c.517C>T	NP_001298240.1:p.Leu173=
NM_024006.4:c.433C>T	NP_076869.1:p.Leu145=
NM_024006.5:c.433C>T	NP_076869.1:p.Leu145=
NM_206824.1:c.*44C>T	NP_996560.1:n.*44C>T
NM_206824.2:c.*44C>T	NP_996560.1:n.*44C>T
XM_011545944.1:c.433C>T	XP_011544246.1:p.Leu145=
XM_011545945.1:c.*44C>T	XP_011544247.1:n.*44C>T
XR_950848.1:n.1221C>T
NM_024006.6:c.433C>T MANE Select	NP_076869.1:p.Leu145=
NM_001311311.2:c.517C>T	NP_001298240.1:p.Leu173=
NM_206824.3:c.*44C>T	NP_996560.1:n.*44C>T