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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:
CA6402724
Gene: VWF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
439332
ClinVar RCV Id:
RCV002274046
dbSNP Id:
rs373787920
ExAC:
12:6131127 G / A
gnomAD v2:
12-6131127-G-A
gnomAD v3:
12-6021961-G-A
gnomAD v4:
12-6021961-G-A
MyVariant Identifiers:
chr12:g.6131127G>A (hg19)
chr12:g.6021961G>A (hg38)
PubMed:
PMID:16321553
PMID:18449422
PMID:19630772
PMID:20230424
PMID:25690668
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.6021961G>A , CM000674.2:g.6021961G>A
GRCh38
NC_000012.11:g.6131127G>A , CM000674.1:g.6131127G>A
GRCh37
NC_000012.10:g.6001388G>A
NCBI36
NG_009072.1:g.107710C>T
NG_009072.2:g.107710C>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000261405.10:c.3613C>T
MANE Select
ENSP00000261405.5:p.Arg1205Cys
ENST00000261405.9:c.3613C>T
ENSP00000261405.5:p.Arg1205Cys
ENST00000538635.5:n.421-28027C>T
NM_000552.3:c.3613C>T
NP_000543.2:p.Arg1205Cys
NM_000552.4:c.3613C>T
NP_000543.2:p.Arg1205Cys
NM_000552.5:c.3613C>T
MANE Select
NP_000543.3:p.Arg1205Cys
Search 100 bp 5'
Search 100 bp 3'