Canonical Allele Identifier: CA115418

Gene: VKORC1

Linked Data

• ClinVar Variation Id: 2212
• ClinVar RCV Id: RCV001521062 ; RCV002247238 ; RCV002280858 ; RCV003227596 ; RCV003944792
• dbSNP Id: rs61742245
• ExAC: 16:31105945 C / A
• gnomAD v2: 16-31105945-C-A
• gnomAD v3: 16-31094624-C-A
• gnomAD v4: 16-31094624-C-A
• MyVariant Identifiers: chr16:g.31105945C>A (hg19) ; chr16:g.31094624C>A (hg38)
• PubMed: PMID:17110455 ; PMID:18252229 ; PMID:22871975 ; PMID:22992668 ; PMID:23571513

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31094624C>A , CM000678.2:g.31094624C>A	GRCh38
NC_000016.9:g.31105945C>A , CM000678.1:g.31105945C>A	GRCh37
NC_000016.8:g.31013446C>A	NCBI36
NG_011564.1:g.5332G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000394975.3:c.106G>T MANE Select	ENSP00000378426.2:p.Asp36Tyr
ENST00000300851.10:c.106G>T	ENSP00000300851.6:p.Asp36Tyr
ENST00000319788.11:c.106G>T	ENSP00000326135.7:p.Asp36Tyr
ENST00000354895.4:c.106G>T	ENSP00000346969.4:p.Asp36Tyr
ENST00000394975.2:c.106G>T	ENSP00000378426.2:p.Asp36Tyr
ENST00000420057.2:c.245+765G>T
ENST00000498155.1:c.270+765G>T	ENSP00000417662.1:n.270+765G>T
ENST00000529564.1:c.106G>T	ENSP00000431371.1:p.Asp36Tyr
ENST00000532364.1:c.106G>T	ENSP00000460316.1:p.Asp36Tyr
NM_001311311.1:c.106G>T	NP_001298240.1:p.Asp36Tyr
NM_024006.4:c.106G>T	NP_076869.1:p.Asp36Tyr
NM_024006.5:c.106G>T	NP_076869.1:p.Asp36Tyr
NM_206824.1:c.106G>T	NP_996560.1:p.Asp36Tyr
NM_206824.2:c.106G>T	NP_996560.1:p.Asp36Tyr
XM_011545944.1:c.106G>T	XP_011544246.1:p.Asp36Tyr
XM_011545945.1:c.106G>T	XP_011544247.1:p.Asp36Tyr
XR_950848.1:n.894G>T
NM_024006.6:c.106G>T MANE Select	NP_076869.1:p.Asp36Tyr
NM_001311311.2:c.106G>T	NP_001298240.1:p.Asp36Tyr
NM_206824.3:c.106G>T	NP_996560.1:p.Asp36Tyr