Canonical Allele Identifier: CA383498349
Gene: VWF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6058014C>A , CM000674.2:g.6058014C>A GRCh38
NC_000012.11:g.6167180C>A , CM000674.1:g.6167180C>A GRCh37
NC_000012.10:g.6037441C>A NCBI36
NG_009072.1:g.71657G>T
NG_009072.2:g.71657G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.1564G>T MANE Select ENSP00000261405.5:p.Gly522Cys
ENST00000261405.9:c.1564G>T ENSP00000261405.5:p.Gly522Cys
ENST00000538635.5:n.420+52501G>T
NM_000552.3:c.1564G>T NP_000543.2:p.Gly522Cys
NM_000552.4:c.1564G>T NP_000543.2:p.Gly522Cys
NM_000552.5:c.1564G>T MANE Select NP_000543.3:p.Gly522Cys