Canonical Allele Identifier: CA114153
Gene: VWF HGNC NCBI

Linked Data

ClinVar Variation Id: 303
ClinVar RCV Id: RCV002264635 RCV002476902
dbSNP Id: rs62643632
ExAC: 12:6153463 CG / C
gnomAD v2: 12-6153463-CG-C
gnomAD v3: 12-6044297-CG-C
gnomAD v4: 12-6044297-CG-C
COSMIC: COSM5547528
MyVariant Identifiers: chr12:g.6153464del (hg19) chr12:g.6044298del (hg38)
PubMed: PMID:1301136 PMID:1302613 PMID:8165603 PMID:8367445
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6044303del , CM000674.2:g.6044303del GRCh38
NC_000012.11:g.6153469del , CM000674.1:g.6153469del GRCh37
NC_000012.10:g.6023730del NCBI36
NG_009072.1:g.85373del
NG_009072.2:g.85373del

Transcript Alleles

HGVS Amino-acid change
ENST00000261405.10:c.2435del MANE Select ENSP00000261405.5:p.Pro812ArgfsTer?
ENST00000261405.9:c.2435del ENSP00000261405.5:p.Pro812ArgfsTer?
ENST00000538635.5:n.421-50364del
NM_000552.3:c.2435del NP_000543.2:p.Pro812ArgfsTer?
NM_000552.4:c.2435del NP_000543.2:p.Pro812ArgfsTer?
NM_000552.5:c.2435del MANE Select NP_000543.3:p.Pro812ArgfsTer?
Search 100 bp 5'
Search 100 bp 3'