Canonical Allele Identifier: CA114123
Gene: VWF HGNC NCBI

Linked Data

ClinVar Variation Id: 288
dbSNP Id: rs61749384

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6019502G>A , CM000674.2:g.6019502G>A GRCh38
NC_000012.11:g.6128668G>A , CM000674.1:g.6128668G>A GRCh37
NC_000012.10:g.5998929G>A NCBI36
NG_009072.1:g.110169C>T
NG_009072.2:g.110169C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.3916C>T MANE Select ENSP00000261405.5:p.Arg1306Trp
ENST00000261405.9:c.3916C>T ENSP00000261405.5:p.Arg1306Trp
ENST00000538635.5:n.421-25568C>T
NM_000552.3:c.3916C>T NP_000543.2:p.Arg1306Trp
NM_000552.4:c.3916C>T NP_000543.2:p.Arg1306Trp
NM_000552.5:c.3916C>T MANE Select NP_000543.3:p.Arg1306Trp