Canonical Allele Identifier: CA8021124

Gene: VKORC1

Linked Data

• ClinVar Variation Id: 887424
• ClinVar RCV Id: RCV001120146
• dbSNP Id: rs777707816
• ExAC: 16:31102568 C / T
• gnomAD v2: 16-31102568-C-T
• gnomAD v3: 16-31091247-C-T
• gnomAD v4: 16-31091247-C-T
• MyVariant Identifiers: chr16:g.31102568C>T (hg19) ; chr16:g.31091247C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31091247C>T , CM000678.2:g.31091247C>T	GRCh38
NC_000016.9:g.31102568C>T , CM000678.1:g.31102568C>T	GRCh37
NC_000016.8:g.31010069C>T	NCBI36
NG_011564.1:g.8709G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000394975.3:c.379G>A MANE Select	ENSP00000378426.2:p.Val127Met
ENST00000300851.10:c.440G>A	ENSP00000300851.6:p.Arg147His
ENST00000319788.11:c.461G>A	ENSP00000326135.7:p.Arg154His
ENST00000354895.4:c.269G>A	ENSP00000346969.4:p.Arg90His
ENST00000394971.7:c.473G>A	ENSP00000378422.3:p.Arg158His
ENST00000394975.2:c.379G>A	ENSP00000378426.2:p.Val127Met
ENST00000420057.2:c.341G>A
ENST00000472468.1:c.64G>A	ENSP00000458994.1:p.Val22Met
ENST00000498155.1:c.476G>A	ENSP00000417662.1:p.Arg159His
ENST00000529564.1:c.283+2065G>A	ENSP00000431371.1:n.283+2065G>A
ENST00000532364.1:c.173+3310G>A	ENSP00000460316.1:n.173+3310G>A
ENST00000533518.5:c.252G>A
NM_001311311.1:c.463G>A	NP_001298240.1:p.Val155Met
NM_024006.4:c.379G>A	NP_076869.1:p.Val127Met
NM_024006.5:c.379G>A	NP_076869.1:p.Val127Met
NM_206824.1:c.269G>A	NP_996560.1:p.Arg90His
NM_206824.2:c.269G>A	NP_996560.1:p.Arg90His
XM_011545944.1:c.379G>A	XP_011544246.1:p.Val127Met
XM_011545945.1:c.269G>A	XP_011544247.1:p.Arg90His
XR_950848.1:n.1167G>A
NM_024006.6:c.379G>A MANE Select	NP_076869.1:p.Val127Met
NM_001311311.2:c.463G>A	NP_001298240.1:p.Val155Met
NM_206824.3:c.269G>A	NP_996560.1:p.Arg90His