Canonical Allele Identifier: CA243723
Gene: VWF HGNC NCBI

Linked Data

ClinVar Variation Id: 196665
dbSNP Id: rs551649729
gnomAD v2: 12-6125341-G-A
gnomAD v3: 12-6016175-G-A
gnomAD v4: 12-6016175-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6016175G>A , CM000674.2:g.6016175G>A GRCh38
NC_000012.11:g.6125341G>A , CM000674.1:g.6125341G>A GRCh37
NC_000012.10:g.5995602G>A NCBI36
NG_009072.1:g.113496C>T
NG_009072.2:g.113496C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.5369C>T MANE Select ENSP00000261405.5:p.Pro1790Leu
ENST00000261405.9:c.5369C>T ENSP00000261405.5:p.Pro1790Leu
ENST00000538635.5:n.421-22241C>T
NM_000552.3:c.5369C>T NP_000543.2:p.Pro1790Leu
NM_000552.4:c.5369C>T NP_000543.2:p.Pro1790Leu
NM_000552.5:c.5369C>T MANE Select NP_000543.3:p.Pro1790Leu