Canonical Allele Identifier: CA114135
Gene: VWF HGNC NCBI

Linked Data

ClinVar Variation Id: 294
dbSNP Id: rs61748477
gnomAD v2: 12-6153527-G-A
gnomAD v3: 12-6044361-G-A
gnomAD v4: 12-6044361-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6044361G>A , CM000674.2:g.6044361G>A GRCh38
NC_000012.11:g.6153527G>A , CM000674.1:g.6153527G>A GRCh37
NC_000012.10:g.6023788G>A NCBI36
NG_009072.1:g.85310C>T
NG_009072.2:g.85310C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.2372C>T MANE Select ENSP00000261405.5:p.Thr791Met
ENST00000261405.9:c.2372C>T ENSP00000261405.5:p.Thr791Met
ENST00000538635.5:n.421-50427C>T
NM_000552.3:c.2372C>T NP_000543.2:p.Thr791Met
NM_000552.4:c.2372C>T NP_000543.2:p.Thr791Met
NM_000552.5:c.2372C>T MANE Select NP_000543.3:p.Thr791Met