Canonical Allele Identifier: CA228279
Gene: VWF HGNC NCBI

Linked Data

ClinVar Variation Id: 100185
ClinVar RCV Id: RCV000086571
dbSNP Id: rs267607307
gnomAD v2: 12-6167086-C-CA
gnomAD v3: 12-6057920-C-CA
gnomAD v4: 12-6057920-C-CA
MyVariant Identifiers: chr12:g.6167087dupA (hg19) chr12:g.6167086_6167087insA (hg19) chr12:g.6057921dupA (hg38) chr12:g.6057920_6057921insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6057921dup , CM000674.2:g.6057921dup GRCh38
NC_000012.11:g.6167087dup , CM000674.1:g.6167087dup GRCh37
NC_000012.10:g.6037348dup NCBI36
NG_009072.1:g.71750dup
NG_009072.2:g.71750dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.1657dup MANE Select ENSP00000261405.5:p.Trp553LeufsTer?
ENST00000261405.9:c.1657dup ENSP00000261405.5:p.Trp553LeufsTer?
ENST00000538635.5:n.420+52594dup
NM_000552.3:c.1657dup NP_000543.2:p.Trp553LeufsTer?
NM_000552.4:c.1657dup NP_000543.2:p.Trp553LeufsTer?
NM_000552.5:c.1657dup MANE Select NP_000543.3:p.Trp553LeufsTer?
Search 100 bp 5'
Search 100 bp 3'