Canonical Allele Identifier: CA228712
Gene: VWF HGNC NCBI

Linked Data

ClinVar Variation Id: 100424
dbSNP Id: rs267607301

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6095586T>C , CM000674.2:g.6095586T>C GRCh38
NC_000012.11:g.6204752T>C , CM000674.1:g.6204752T>C GRCh37
NC_000012.10:g.6075013T>C NCBI36
NG_009072.1:g.34085A>G
NG_009072.2:g.34085A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.533-2A>G MANE Select ENSP00000261405.5:n.533-2A>G
ENST00000261405.9:c.533-2A>G ENSP00000261405.5:n.533-2A>G
ENST00000321023.5:c.*592-2A>G ENSP00000461331.1:n.*592-2A>G
ENST00000538635.5:n.420+14929A>G
NM_000552.3:c.533-2A>G NP_000543.2:n.533-2A>G
NM_000552.4:c.533-2A>G NP_000543.2:n.533-2A>G
NM_000552.5:c.533-2A>G MANE Select NP_000543.3:n.533-2A>G