Canonical Allele Identifier: CA2216888756

Gene: VKORC1

Linked Data

• dbSNP Id: rs1596794561
• gnomAD v4: 16-31091019-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31091019G>A , CM000678.2:g.31091019G>A	GRCh38
NC_000016.9:g.31102340G>A , CM000678.1:g.31102340G>A	GRCh37
NC_000016.8:g.31009841G>A	NCBI36
NG_011564.1:g.8937C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000394975.3:c.*115C>T MANE Select	ENSP00000378426.2:n.*115C>T
ENST00000300851.10:c.*218C>T	ENSP00000300851.6:n.*218C>T
ENST00000319788.11:c.*218C>T	ENSP00000326135.7:n.*218C>T
ENST00000354895.4:c.*218C>T	ENSP00000346969.4:n.*218C>T
ENST00000394975.2:c.*115C>T	ENSP00000378426.2:n.*115C>T
ENST00000420057.2:c.569C>T
ENST00000529564.1:c.283+2293C>T	ENSP00000431371.1:n.283+2293C>T
ENST00000532364.1:c.173+3538C>T	ENSP00000460316.1:n.173+3538C>T
ENST00000533518.5:c.407+73C>T
NM_001311311.1:c.*115C>T	NP_001298240.1:n.*115C>T
NM_024006.4:c.*115C>T	NP_076869.1:n.*115C>T
NM_024006.5:c.*115C>T	NP_076869.1:n.*115C>T
NM_206824.1:c.*218C>T	NP_996560.1:n.*218C>T
NM_206824.2:c.*218C>T	NP_996560.1:n.*218C>T
XM_011545944.1:c.*115C>T	XP_011544246.1:n.*115C>T
XM_011545945.1:c.*218C>T	XP_011544247.1:n.*218C>T
XR_950848.1:n.1395C>T
NM_024006.6:c.*115C>T MANE Select	NP_076869.1:n.*115C>T
NM_001311311.2:c.*115C>T	NP_001298240.1:n.*115C>T
NM_206824.3:c.*218C>T	NP_996560.1:n.*218C>T