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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA114125
Gene: VWF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
289
ClinVar RCV Id:
RCV002225253
dbSNP Id:
rs61749387
MyVariant Identifiers:
chr12:g.6128662G>A (hg19)
chr12:g.6019496G>A (hg38)
PubMed:
PMID:1419803
PMID:1761120
PMID:2010538
PMID:8865541
PMID:20409624
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.6019496G>A , CM000674.2:g.6019496G>A
GRCh38
NC_000012.11:g.6128662G>A , CM000674.1:g.6128662G>A
GRCh37
NC_000012.10:g.5998923G>A
NCBI36
NG_009072.1:g.110175C>T
NG_009072.2:g.110175C>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000261405.10:c.3922C>T
MANE Select
ENSP00000261405.5:p.Arg1308Cys
ENST00000261405.9:c.3922C>T
ENSP00000261405.5:p.Arg1308Cys
ENST00000538635.5:n.421-25562C>T
NM_000552.3:c.3922C>T
NP_000543.2:p.Arg1308Cys
NM_000552.4:c.3922C>T
NP_000543.2:p.Arg1308Cys
NM_000552.5:c.3922C>T
MANE Select
NP_000543.3:p.Arg1308Cys
Search 100 bp 5'
Search 100 bp 3'