Canonical Allele Identifier: CA6403022
Gene: VWF HGNC NCBI
COSMIC:
COSM4147372 (not active)
MyVariant.info:
GRCh38 chr12:g.6034818T>C
GRCh37 chr12:g.6143984T>C
Revel Score:
ENST00000261405 (MANE Select) 0.086
gnomAD v2:
12:6143984 T / C
gnomAD v3:
12:6034818 T / C
gnomAD v4:
chr12-6034818-T-C
Joint Max Group AF 0.94654214 (AFR)
Genomes Max Group AF 0.94303265 (AFR)
Exomes Max Group AF 0.94550025 (AFR)
dbSNP:
216321
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6034818T>C , CM000674.2:g.6034818T>C GRCh38
NC_000012.11:g.6143984T>C , CM000674.1:g.6143984T>C GRCh37
NC_000012.10:g.6014245T>C NCBI36
NG_009072.2:g.94853A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.2555A>G MANE Select ENSP00000261405.5:p.Gln852Arg
ENST00000261405.9:c.2555A>G ENSP00000261405.5:p.Gln852Arg
ENST00000538635.5:n.421-40884A>G
NM_000552.5:c.2555A>G MANE Select NP_000543.3:p.Gln852Arg
Search 100 bp 5'
Search 100 bp 3'