Canonical Allele Identifier: CA8021126

Gene: VKORC1

Linked Data

• dbSNP Id: rs770754643
• ExAC: 16:31102572 G / C
• gnomAD v2: 16-31102572-G-C
• gnomAD v4: 16-31091251-G-C
• MyVariant Identifiers: chr16:g.31102572G>C (hg19) ; chr16:g.31091251G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31091251G>C , CM000678.2:g.31091251G>C	GRCh38
NC_000016.9:g.31102572G>C , CM000678.1:g.31102572G>C	GRCh37
NC_000016.8:g.31010073G>C	NCBI36
NG_011564.1:g.8705C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000394975.3:c.375C>G MANE Select	ENSP00000378426.2:p.Phe125Leu
ENST00000300851.10:c.436C>G	ENSP00000300851.6:p.Leu146Val
ENST00000319788.11:c.457C>G	ENSP00000326135.7:p.Leu153Val
ENST00000354895.4:c.265C>G	ENSP00000346969.4:p.Leu89Val
ENST00000394971.7:c.469C>G	ENSP00000378422.3:p.Leu157Val
ENST00000394975.2:c.375C>G	ENSP00000378426.2:p.Phe125Leu
ENST00000420057.2:c.337C>G
ENST00000472468.1:c.60C>G	ENSP00000458994.1:p.Phe20Leu
ENST00000498155.1:c.472C>G	ENSP00000417662.1:p.Leu158Val
ENST00000529564.1:c.283+2061C>G	ENSP00000431371.1:n.283+2061C>G
ENST00000532364.1:c.173+3306C>G	ENSP00000460316.1:n.173+3306C>G
ENST00000533518.5:c.248C>G
NM_001311311.1:c.459C>G	NP_001298240.1:p.Phe153Leu
NM_024006.4:c.375C>G	NP_076869.1:p.Phe125Leu
NM_024006.5:c.375C>G	NP_076869.1:p.Phe125Leu
NM_206824.1:c.265C>G	NP_996560.1:p.Leu89Val
NM_206824.2:c.265C>G	NP_996560.1:p.Leu89Val
XM_011545944.1:c.375C>G	XP_011544246.1:p.Phe125Leu
XM_011545945.1:c.265C>G	XP_011544247.1:p.Leu89Val
XR_950848.1:n.1163C>G
NM_024006.6:c.375C>G MANE Select	NP_076869.1:p.Phe125Leu
NM_001311311.2:c.459C>G	NP_001298240.1:p.Phe153Leu
NM_206824.3:c.265C>G	NP_996560.1:p.Leu89Val