Canonical Allele Identifier: CA10576177
Gene: VKORC1 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.31091000C>T
GRCh37 chr16:g.31102321C>T
gnomAD v2:
16:31102321 C / T
gnomAD v3:
16:31091000 C / T
gnomAD v4:
chr16-31091000-C-T
Joint Max Group AF 0.68284069 (SAS)
Genomes Max Group AF 0.69044131 (SAS)
Exomes Max Group AF 0.68122321 (SAS)
ClinVar RCV:
RCV000211278
RCV000295118
ClinVar Variation:
226016
dbSNP:
7294
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.31091000C>T , CM000678.2:g.31091000C>T GRCh38
NC_000016.9:g.31102321C>T , CM000678.1:g.31102321C>T GRCh37
NC_000016.8:g.31009822C>T NCBI36
NG_011564.1:g.8956G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000394975.3:c.*134G>A MANE Select ENSP00000378426.2:n.*134G>A
ENST00000300851.10:c.*237G>A ENSP00000300851.6:n.*237G>A
ENST00000319788.11:c.*237G>A ENSP00000326135.7:n.*237G>A
ENST00000354895.4:c.*237G>A ENSP00000346969.4:n.*237G>A
ENST00000394975.2:c.*134G>A ENSP00000378426.2:n.*134G>A
ENST00000420057.2:c.588G>A
ENST00000529564.1:c.283+2312G>A ENSP00000431371.1:n.283+2312G>A
ENST00000532364.1:c.173+3557G>A ENSP00000460316.1:n.173+3557G>A
ENST00000533518.5:c.407+92G>A
NM_001311311.1:c.*134G>A NP_001298240.1:n.*134G>A
NM_024006.4:c.*134G>A NP_076869.1:n.*134G>A
NM_024006.5:c.*134G>A NP_076869.1:n.*134G>A
NM_206824.1:c.*237G>A NP_996560.1:n.*237G>A
NM_206824.2:c.*237G>A NP_996560.1:n.*237G>A
XM_011545944.1:c.*134G>A XP_011544246.1:n.*134G>A
XM_011545945.1:c.*237G>A XP_011544247.1:n.*237G>A
XR_950848.1:n.1414G>A
NM_024006.6:c.*134G>A MANE Select NP_076869.1:n.*134G>A
NM_001311311.2:c.*134G>A NP_001298240.1:n.*134G>A
NM_206824.3:c.*237G>A NP_996560.1:n.*237G>A
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