Canonical Allele Identifier: CA228277
Gene: VWF HGNC NCBI

Linked Data

ClinVar Variation Id: 100184
ClinVar RCV Id: RCV000086568
dbSNP Id: rs267607306

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6058005C>T , CM000674.2:g.6058005C>T GRCh38
NC_000012.11:g.6167171C>T , CM000674.1:g.6167171C>T GRCh37
NC_000012.10:g.6037432C>T NCBI36
NG_009072.1:g.71666G>A
NG_009072.2:g.71666G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.1573G>A MANE Select ENSP00000261405.5:p.Gly525Arg
ENST00000261405.9:c.1573G>A ENSP00000261405.5:p.Gly525Arg
ENST00000538635.5:n.420+52510G>A
NM_000552.3:c.1573G>A NP_000543.2:p.Gly525Arg
NM_000552.4:c.1573G>A NP_000543.2:p.Gly525Arg
NM_000552.5:c.1573G>A MANE Select NP_000543.3:p.Gly525Arg