Canonical Allele Identifier: CA395729690

Gene: VKORC1

Linked Data

• MyVariant Identifiers: chr16:g.31102573A>C (hg19) ; chr16:g.31091252A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31091252A>C , CM000678.2:g.31091252A>C	GRCh38
NC_000016.9:g.31102573A>C , CM000678.1:g.31102573A>C	GRCh37
NC_000016.8:g.31010074A>C	NCBI36
NG_011564.1:g.8704T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000394975.3:c.374T>G MANE Select	ENSP00000378426.2:p.Phe125Cys
ENST00000300851.10:c.435T>G	ENSP00000300851.6:p.Val145=
ENST00000319788.11:c.456T>G	ENSP00000326135.7:p.Val152=
ENST00000354895.4:c.264T>G	ENSP00000346969.4:p.Val88=
ENST00000394971.7:c.468T>G	ENSP00000378422.3:p.Val156=
ENST00000394975.2:c.374T>G	ENSP00000378426.2:p.Phe125Cys
ENST00000420057.2:c.336T>G
ENST00000472468.1:c.59T>G	ENSP00000458994.1:p.Phe20Cys
ENST00000498155.1:c.471T>G	ENSP00000417662.1:p.Val157=
ENST00000529564.1:c.283+2060T>G	ENSP00000431371.1:n.283+2060T>G
ENST00000532364.1:c.173+3305T>G	ENSP00000460316.1:n.173+3305T>G
ENST00000533518.5:c.247T>G
NM_001311311.1:c.458T>G	NP_001298240.1:p.Phe153Cys
NM_024006.4:c.374T>G	NP_076869.1:p.Phe125Cys
NM_024006.5:c.374T>G	NP_076869.1:p.Phe125Cys
NM_206824.1:c.264T>G	NP_996560.1:p.Val88=
NM_206824.2:c.264T>G	NP_996560.1:p.Val88=
XM_011545944.1:c.374T>G	XP_011544246.1:p.Phe125Cys
XM_011545945.1:c.264T>G	XP_011544247.1:p.Val88=
XR_950848.1:n.1162T>G
NM_024006.6:c.374T>G MANE Select	NP_076869.1:p.Phe125Cys
NM_001311311.2:c.458T>G	NP_001298240.1:p.Phe153Cys
NM_206824.3:c.264T>G	NP_996560.1:p.Val88=