Canonical Allele Identifier: CA383495755
Gene: VWF HGNC NCBI

Linked Data

dbSNP Id: rs1319094965
gnomAD v2: 12-6125392-G-A
gnomAD v4: 12-6016226-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6016226G>A , CM000674.2:g.6016226G>A GRCh38
NC_000012.11:g.6125392G>A , CM000674.1:g.6125392G>A GRCh37
NC_000012.10:g.5995653G>A NCBI36
NG_009072.1:g.113445C>T
NG_009072.2:g.113445C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.5318C>T MANE Select ENSP00000261405.5:p.Ala1773Val
ENST00000261405.9:c.5318C>T ENSP00000261405.5:p.Ala1773Val
ENST00000538635.5:n.421-22292C>T
NM_000552.3:c.5318C>T NP_000543.2:p.Ala1773Val
NM_000552.4:c.5318C>T NP_000543.2:p.Ala1773Val
NM_000552.5:c.5318C>T MANE Select NP_000543.3:p.Ala1773Val