Canonical Allele Identifier: CA6403340
Gene: VWF HGNC NCBI

Linked Data

dbSNP Id: rs767005834
gnomAD v4: 12-6058026-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6058026C>A , CM000674.2:g.6058026C>A GRCh38
NC_000012.11:g.6167192C>A , CM000674.1:g.6167192C>A GRCh37
NC_000012.10:g.6037453C>A NCBI36
NG_009072.1:g.71645G>T
NG_009072.2:g.71645G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.1552G>T MANE Select ENSP00000261405.5:p.Gly518Trp
ENST00000261405.9:c.1552G>T ENSP00000261405.5:p.Gly518Trp
ENST00000538635.5:n.420+52489G>T
NM_000552.3:c.1552G>T NP_000543.2:p.Gly518Trp
NM_000552.4:c.1552G>T NP_000543.2:p.Gly518Trp
NM_000552.5:c.1552G>T MANE Select NP_000543.3:p.Gly518Trp