Canonical Allele Identifier: CA6402593
Gene: VWF HGNC NCBI
ClinGen Evidence Repository:
Classification Benign
Condition hereditary von Willebrand disease
VCEP von Willebrand Disease VCEP
MyVariant.info:
GRCh38 chr12:g.6019277T>C
GRCh37 chr12:g.6128443T>C
Revel Score:
ENST00000261405 (MANE Select) 0.187
gnomAD v2:
12:6128443 T / C
gnomAD v3:
12:6019277 T / C
gnomAD v4:
chr12-6019277-T-C
Joint Max Group AF 0.89251432 (AFR)
Genomes Max Group AF 0.88526704 (AFR)
Exomes Max Group AF 0.89625034 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6019277T>C , CM000674.2:g.6019277T>C GRCh38
NC_000012.11:g.6128443T>C , CM000674.1:g.6128443T>C GRCh37
NC_000012.10:g.5998704T>C NCBI36
NG_009072.1:g.110394A>G
NG_009072.2:g.110394A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.4141A>G MANE Select ENSP00000261405.5:p.Thr1381Ala
ENST00000261405.9:c.4141A>G ENSP00000261405.5:p.Thr1381Ala
ENST00000538635.5:n.421-25343A>G
NM_000552.3:c.4141A>G NP_000543.2:p.Thr1381Ala
NM_000552.4:c.4141A>G NP_000543.2:p.Thr1381Ala
NM_000552.5:c.4141A>G MANE Select NP_000543.3:p.Thr1381Ala
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