Canonical Allele Identifier: CA228665
Gene: VWF HGNC NCBI

Linked Data

ClinVar Variation Id: 100395
dbSNP Id: rs61750580
gnomAD v2: 12-6127759-C-T
gnomAD v4: 12-6018593-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6018593C>T , CM000674.2:g.6018593C>T GRCh38
NC_000012.11:g.6127759C>T , CM000674.1:g.6127759C>T GRCh37
NC_000012.10:g.5998020C>T NCBI36
NG_009072.1:g.111078G>A
NG_009072.2:g.111078G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.4825G>A MANE Select ENSP00000261405.5:p.Gly1609Arg
ENST00000261405.9:c.4825G>A ENSP00000261405.5:p.Gly1609Arg
ENST00000538635.5:n.421-24659G>A
NM_000552.3:c.4825G>A NP_000543.2:p.Gly1609Arg
NM_000552.4:c.4825G>A NP_000543.2:p.Gly1609Arg
NM_000552.5:c.4825G>A MANE Select NP_000543.3:p.Gly1609Arg