Canonical Allele Identifier: CA383498315
Gene: VWF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6057998T>A , CM000674.2:g.6057998T>A GRCh38
NC_000012.11:g.6167164T>A , CM000674.1:g.6167164T>A GRCh37
NC_000012.10:g.6037425T>A NCBI36
NG_009072.1:g.71673A>T
NG_009072.2:g.71673A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.1580A>T MANE Select ENSP00000261405.5:p.Tyr527Phe
ENST00000261405.9:c.1580A>T ENSP00000261405.5:p.Tyr527Phe
ENST00000538635.5:n.420+52517A>T
NM_000552.3:c.1580A>T NP_000543.2:p.Tyr527Phe
NM_000552.4:c.1580A>T NP_000543.2:p.Tyr527Phe
NM_000552.5:c.1580A>T MANE Select NP_000543.3:p.Tyr527Phe