Canonical Allele Identifier: CA114139
Gene: VWF HGNC NCBI

Linked Data

ClinVar Variation Id: 296
dbSNP Id: rs41276738
gnomAD v2: 12-6143978-C-T
gnomAD v3: 12-6034812-C-T
gnomAD v4: 12-6034812-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6034812C>T , CM000674.2:g.6034812C>T GRCh38
NC_000012.11:g.6143978C>T , CM000674.1:g.6143978C>T GRCh37
NC_000012.10:g.6014239C>T NCBI36
NG_009072.1:g.94859G>A
NG_009072.2:g.94859G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.2561G>A MANE Select ENSP00000261405.5:p.Arg854Gln
ENST00000261405.9:c.2561G>A ENSP00000261405.5:p.Arg854Gln
ENST00000538635.5:n.421-40878G>A
NM_000552.3:c.2561G>A NP_000543.2:p.Arg854Gln
NM_000552.4:c.2561G>A NP_000543.2:p.Arg854Gln
NM_000552.5:c.2561G>A MANE Select NP_000543.3:p.Arg854Gln