Canonical Allele Identifier: CA114158
Gene: VWF HGNC NCBI

Linked Data

ClinVar Variation Id: 306
dbSNP Id: rs61751310

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5949140A>G , CM000674.2:g.5949140A>G GRCh38
NC_000012.11:g.6058306A>G , CM000674.1:g.6058306A>G GRCh37
NC_000012.10:g.5928567A>G NCBI36
NG_009072.1:g.180531T>C
NG_009072.2:g.180531T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.8317T>C MANE Select ENSP00000261405.5:p.Cys2773Arg
ENST00000261405.9:c.8317T>C ENSP00000261405.5:p.Cys2773Arg
NM_000552.3:c.8317T>C NP_000543.2:p.Cys2773Arg
NM_000552.4:c.8317T>C NP_000543.2:p.Cys2773Arg
NM_000552.5:c.8317T>C MANE Select NP_000543.3:p.Cys2773Arg