Canonical Allele Identifier: CA228398
Gene: VWF HGNC NCBI

Linked Data

ClinVar Variation Id: 100257
dbSNP Id: rs2363337
gnomAD v2: 12-6132796-C-T
gnomAD v3: 12-6023630-C-T
gnomAD v4: 12-6023630-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6023630C>T , CM000674.2:g.6023630C>T GRCh38
NC_000012.11:g.6132796C>T , CM000674.1:g.6132796C>T GRCh37
NC_000012.10:g.6003057C>T NCBI36
NG_009072.1:g.106041G>A
NG_009072.2:g.106041G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.3379+1G>A MANE Select ENSP00000261405.5:n.3379+1G>A
ENST00000261405.9:c.3379+1G>A ENSP00000261405.5:n.3379+1G>A
ENST00000538635.5:n.421-29696G>A
NM_000552.3:c.3379+1G>A NP_000543.2:n.3379+1G>A
NM_000552.4:c.3379+1G>A NP_000543.2:n.3379+1G>A
NM_000552.5:c.3379+1G>A MANE Select NP_000543.3:n.3379+1G>A