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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:
CA228482
Gene: VWF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
100300
ClinVar RCV Id:
RCV000086700
RCV002243729
dbSNP Id:
rs61749385
gnomAD v3:
12-6019501-C-T
gnomAD v4:
12-6019501-C-T
MyVariant Identifiers:
chr12:g.6128667C>T (hg19)
chr12:g.6019501C>T (hg38)
PubMed:
PMID:9108394
PMID:9198195
PMID:17598021
PMID:18725999
PMID:20200350
PMID:25185554
PMID:25728415
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.6019501C>T , CM000674.2:g.6019501C>T
GRCh38
NC_000012.11:g.6128667C>T , CM000674.1:g.6128667C>T
GRCh37
NC_000012.10:g.5998928C>T
NCBI36
NG_009072.1:g.110170G>A
NG_009072.2:g.110170G>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000261405.10:c.3917G>A
MANE Select
ENSP00000261405.5:p.Arg1306Gln
ENST00000261405.9:c.3917G>A
ENSP00000261405.5:p.Arg1306Gln
ENST00000538635.5:n.421-25567G>A
NM_000552.3:c.3917G>A
NP_000543.2:p.Arg1306Gln
NM_000552.4:c.3917G>A
NP_000543.2:p.Arg1306Gln
NM_000552.5:c.3917G>A
MANE Select
NP_000543.3:p.Arg1306Gln
Search 100 bp 5'
Search 100 bp 3'