Canonical Allele Identifier: CA280619739

Gene: VKORC1

Linked Data

• dbSNP Id: rs993797148
• gnomAD v3: 16-31091017-G-A
• gnomAD v4: 16-31091017-G-A
• MyVariant Identifiers: chr16:g.31102338G>A (hg19) ; chr16:g.31091017G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31091017G>A , CM000678.2:g.31091017G>A	GRCh38
NC_000016.9:g.31102338G>A , CM000678.1:g.31102338G>A	GRCh37
NC_000016.8:g.31009839G>A	NCBI36
NG_011564.1:g.8939C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000394975.3:c.*117C>T MANE Select	ENSP00000378426.2:n.*117C>T
ENST00000300851.10:c.*220C>T	ENSP00000300851.6:n.*220C>T
ENST00000319788.11:c.*220C>T	ENSP00000326135.7:n.*220C>T
ENST00000354895.4:c.*220C>T	ENSP00000346969.4:n.*220C>T
ENST00000394975.2:c.*117C>T	ENSP00000378426.2:n.*117C>T
ENST00000420057.2:c.571C>T
ENST00000529564.1:c.283+2295C>T	ENSP00000431371.1:n.283+2295C>T
ENST00000532364.1:c.173+3540C>T	ENSP00000460316.1:n.173+3540C>T
ENST00000533518.5:c.407+75C>T
NM_001311311.1:c.*117C>T	NP_001298240.1:n.*117C>T
NM_024006.4:c.*117C>T	NP_076869.1:n.*117C>T
NM_024006.5:c.*117C>T	NP_076869.1:n.*117C>T
NM_206824.1:c.*220C>T	NP_996560.1:n.*220C>T
NM_206824.2:c.*220C>T	NP_996560.1:n.*220C>T
XM_011545944.1:c.*117C>T	XP_011544246.1:n.*117C>T
XM_011545945.1:c.*220C>T	XP_011544247.1:n.*220C>T
XR_950848.1:n.1397C>T
NM_024006.6:c.*117C>T MANE Select	NP_076869.1:n.*117C>T
NM_001311311.2:c.*117C>T	NP_001298240.1:n.*117C>T
NM_206824.3:c.*220C>T	NP_996560.1:n.*220C>T