Canonical Allele Identifier: CA228357
Gene: VWF HGNC NCBI
ClinGen Evidence Repository:
Classification Pathogenic
Condition von Willebrand disease type 2N
VCEP von Willebrand Disease VCEP
MyVariant.info:
GRCh38 chr12:g.6034738C>T
GRCh37 chr12:g.6143904C>T
Revel Score:
ENST00000261405 (MANE Select) 0.660
gnomAD v2:
12:6143904 C / T
gnomAD v3:
12:6034738 C / T
gnomAD v4:
chr12-6034738-C-T
Joint Max Group AF 0.00014091 (AMR)
Genomes Max Group AF 0.00021507 (AMR)
Exomes Max Group AF 0.00007281 (AMR)
ClinVar RCV:
RCV000086623
ClinVar Variation:
100231
dbSNP:
61748485
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6034738C>T , CM000674.2:g.6034738C>T GRCh38
NC_000012.11:g.6143904C>T , CM000674.1:g.6143904C>T GRCh37
NC_000012.10:g.6014165C>T NCBI36
NG_009072.1:g.94933G>A
NG_009072.2:g.94933G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.2635G>A MANE Select ENSP00000261405.5:p.Asp879Asn
ENST00000261405.9:c.2635G>A ENSP00000261405.5:p.Asp879Asn
ENST00000538635.5:n.421-40804G>A
NM_000552.3:c.2635G>A NP_000543.2:p.Asp879Asn
NM_000552.4:c.2635G>A NP_000543.2:p.Asp879Asn
NM_000552.5:c.2635G>A MANE Select NP_000543.3:p.Asp879Asn
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