Canonical Allele Identifier: CA10576179

Gene: VKORC1

Linked Data

• ClinVar Variation Id: 226026
• ClinVar RCV Id: RCV000211369 ; RCV000610753
• dbSNP Id: rs8050894
• gnomAD v2: 16-31104509-C-G
• gnomAD v3: 16-31093188-C-G
• gnomAD v4: 16-31093188-C-G
• MyVariant Identifiers: chr16:g.31104509C>G (hg19) ; chr16:g.31093188C>G (hg38)
• PubMed: PMID:16270629 ; PMID:16493479 ; PMID:16611750 ; PMID:17456829 ; PMID:18030307 ; PMID:19874474 ; PMID:20203262 ; PMID:22992668 ; PMID:24019055

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31093188C>G , CM000678.2:g.31093188C>G	GRCh38
NC_000016.9:g.31104509C>G , CM000678.1:g.31104509C>G	GRCh37
NC_000016.8:g.31012010C>G	NCBI36
NG_011564.1:g.6768G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000394975.3:c.283+124G>C MANE Select	ENSP00000378426.2:n.283+124G>C
ENST00000300851.10:c.344+124G>C	ENSP00000300851.6:n.344+124G>C
ENST00000319788.11:c.283+124G>C	ENSP00000326135.7:n.283+124G>C
ENST00000354895.4:c.173+1369G>C	ENSP00000346969.4:n.173+1369G>C
ENST00000394971.7:c.377+124G>C	ENSP00000378422.3:n.377+124G>C
ENST00000394975.2:c.283+124G>C	ENSP00000378426.2:n.283+124G>C
ENST00000420057.2:c.246-1846G>C
ENST00000472468.1:c.-33+124G>C	ENSP00000458994.1:n.-33+124G>C
ENST00000498155.1:c.380+124G>C	ENSP00000417662.1:n.380+124G>C
ENST00000529564.1:c.283+124G>C	ENSP00000431371.1:n.283+124G>C
ENST00000532364.1:c.173+1369G>C	ENSP00000460316.1:n.173+1369G>C
ENST00000533518.5:c.156+124G>C
NM_001311311.1:c.283+124G>C	NP_001298240.1:n.283+124G>C
NM_024006.4:c.283+124G>C	NP_076869.1:n.283+124G>C
NM_024006.5:c.283+124G>C	NP_076869.1:n.283+124G>C
NM_206824.1:c.173+1369G>C	NP_996560.1:n.173+1369G>C
NM_206824.2:c.173+1369G>C	NP_996560.1:n.173+1369G>C
XM_011545944.1:c.283+124G>C	XP_011544246.1:n.283+124G>C
XM_011545945.1:c.173+1369G>C	XP_011544247.1:n.173+1369G>C
XR_950848.1:n.1071+124G>C
NM_024006.6:c.283+124G>C MANE Select	NP_076869.1:n.283+124G>C
NM_001311311.2:c.283+124G>C	NP_001298240.1:n.283+124G>C
NM_206824.3:c.173+1369G>C	NP_996560.1:n.173+1369G>C