Canonical Allele Identifier: CA228853
Gene: VWF HGNC NCBI

Linked Data

ClinVar Variation Id: 100506
ClinVar RCV Id: RCV000086921
dbSNP Id: rs267607369

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5949055G>T , CM000674.2:g.5949055G>T GRCh38
NC_000012.11:g.6058221G>T , CM000674.1:g.6058221G>T GRCh37
NC_000012.10:g.5928482G>T NCBI36
NG_009072.1:g.180616C>A
NG_009072.2:g.180616C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.8402C>A MANE Select ENSP00000261405.5:p.Ala2801Asp
ENST00000261405.9:c.8402C>A ENSP00000261405.5:p.Ala2801Asp
NM_000552.3:c.8402C>A NP_000543.2:p.Ala2801Asp
NM_000552.4:c.8402C>A NP_000543.2:p.Ala2801Asp
NM_000552.5:c.8402C>A MANE Select NP_000543.3:p.Ala2801Asp