Canonical Allele Identifier: CA6402787
Gene: VWF HGNC NCBI

Linked Data

ClinVar Variation Id: 3189440
ClinVar RCV Id: RCV004485318
dbSNP Id: rs771087646
gnomAD v2: 12-6132917-C-T
gnomAD v3: 12-6023751-C-T
gnomAD v4: 12-6023751-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6023751C>T , CM000674.2:g.6023751C>T GRCh38
NC_000012.11:g.6132917C>T , CM000674.1:g.6132917C>T GRCh37
NC_000012.10:g.6003178C>T NCBI36
NG_009072.1:g.105920G>A
NG_009072.2:g.105920G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.3259G>A MANE Select ENSP00000261405.5:p.Asp1087Asn
ENST00000261405.9:c.3259G>A ENSP00000261405.5:p.Asp1087Asn
ENST00000538635.5:n.421-29817G>A
NM_000552.3:c.3259G>A NP_000543.2:p.Asp1087Asn
NM_000552.4:c.3259G>A NP_000543.2:p.Asp1087Asn
NM_000552.5:c.3259G>A MANE Select NP_000543.3:p.Asp1087Asn