Canonical Allele Identifier: CA395729766

Gene: VKORC1

Linked Data

• dbSNP Id: rs2057287557
• gnomAD v4: 16-31091269-G-A
• MyVariant Identifiers: chr16:g.31102590G>A (hg19) ; chr16:g.31091269G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31091269G>A , CM000678.2:g.31091269G>A	GRCh38
NC_000016.9:g.31102590G>A , CM000678.1:g.31102590G>A	GRCh37
NC_000016.8:g.31010091G>A	NCBI36
NG_011564.1:g.8687C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394975.3:c.357C>T MANE Select	ENSP00000378426.2:p.Tyr119=
ENST00000300851.10:c.418C>T	ENSP00000300851.6:p.Pro140Ser
ENST00000319788.11:c.439C>T	ENSP00000326135.7:p.Pro147Ser
ENST00000354895.4:c.247C>T	ENSP00000346969.4:p.Pro83Ser
ENST00000394971.7:c.451C>T	ENSP00000378422.3:p.Pro151Ser
ENST00000394975.2:c.357C>T	ENSP00000378426.2:p.Tyr119=
ENST00000420057.2:c.319C>T
ENST00000472468.1:c.42C>T	ENSP00000458994.1:p.Tyr14=
ENST00000498155.1:c.454C>T	ENSP00000417662.1:p.Pro152Ser
ENST00000529564.1:c.283+2043C>T	ENSP00000431371.1:n.283+2043C>T
ENST00000532364.1:c.173+3288C>T	ENSP00000460316.1:n.173+3288C>T
ENST00000533518.5:c.230C>T
NM_001311311.1:c.441C>T	NP_001298240.1:p.Tyr147=
NM_024006.4:c.357C>T	NP_076869.1:p.Tyr119=
NM_024006.5:c.357C>T	NP_076869.1:p.Tyr119=
NM_206824.1:c.247C>T	NP_996560.1:p.Pro83Ser
NM_206824.2:c.247C>T	NP_996560.1:p.Pro83Ser
XM_011545944.1:c.357C>T	XP_011544246.1:p.Tyr119=
XM_011545945.1:c.247C>T	XP_011544247.1:p.Pro83Ser
XR_950848.1:n.1145C>T
NM_024006.6:c.357C>T MANE Select	NP_076869.1:p.Tyr119=
NM_001311311.2:c.441C>T	NP_001298240.1:p.Tyr147=
NM_206824.3:c.247C>T	NP_996560.1:p.Pro83Ser