Canonical Allele Identifier: CA383499077
Gene: VWF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6018599C>T , CM000674.2:g.6018599C>T GRCh38
NC_000012.11:g.6127765C>T , CM000674.1:g.6127765C>T GRCh37
NC_000012.10:g.5998026C>T NCBI36
NG_009072.1:g.111072G>A
NG_009072.2:g.111072G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.4819G>A MANE Select ENSP00000261405.5:p.Val1607Ile
ENST00000261405.9:c.4819G>A ENSP00000261405.5:p.Val1607Ile
ENST00000538635.5:n.421-24665G>A
NM_000552.3:c.4819G>A NP_000543.2:p.Val1607Ile
NM_000552.4:c.4819G>A NP_000543.2:p.Val1607Ile
NM_000552.5:c.4819G>A MANE Select NP_000543.3:p.Val1607Ile