Canonical Allele Identifier: CA114147
Gene: VWF HGNC NCBI
ClinGen Classification:
ClinVar Variation:
dbSNP:
gnomAD v4:
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6019448C>T , CM000674.2:g.6019448C>T GRCh38
NC_000012.11:g.6128614C>T , CM000674.1:g.6128614C>T GRCh37
NC_000012.10:g.5998875C>T NCBI36
NG_009072.1:g.110223G>A
NG_009072.2:g.110223G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.3970G>A MANE Select ENSP00000261405.5:p.Gly1324Ser
ENST00000261405.9:c.3970G>A ENSP00000261405.5:p.Gly1324Ser
ENST00000538635.5:n.421-25514G>A
NM_000552.3:c.3970G>A NP_000543.2:p.Gly1324Ser
NM_000552.4:c.3970G>A NP_000543.2:p.Gly1324Ser
NM_000552.5:c.3970G>A MANE Select NP_000543.3:p.Gly1324Ser