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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:
CA114139
Gene: VWF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
296
ClinVar RCV Id:
RCV001270529
RCV003415598
RCV003987302
dbSNP Id:
rs41276738
ExAC:
12:6143978 C / T
gnomAD v2:
12-6143978-C-T
gnomAD v3:
12-6034812-C-T
gnomAD v4:
12-6034812-C-T
MyVariant Identifiers:
chr12:g.6143978C>T (hg19)
chr12:g.6034812C>T (hg38)
PubMed:
PMID:1581215
PMID:1832934
PMID:1906877
PMID:1918030
PMID:8500791
PMID:15461624
PMID:16953269
PMID:16985174
PMID:20409624
PMID:21371195
PMID:22197721
PMID:22875612
PMID:23426949
PMID:23636243
PMID:23891399
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.6034812C>T , CM000674.2:g.6034812C>T
GRCh38
NC_000012.11:g.6143978C>T , CM000674.1:g.6143978C>T
GRCh37
NC_000012.10:g.6014239C>T
NCBI36
NG_009072.1:g.94859G>A
NG_009072.2:g.94859G>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000261405.10:c.2561G>A
MANE Select
ENSP00000261405.5:p.Arg854Gln
ENST00000261405.9:c.2561G>A
ENSP00000261405.5:p.Arg854Gln
ENST00000538635.5:n.421-40878G>A
NM_000552.3:c.2561G>A
NP_000543.2:p.Arg854Gln
NM_000552.4:c.2561G>A
NP_000543.2:p.Arg854Gln
NM_000552.5:c.2561G>A
MANE Select
NP_000543.3:p.Arg854Gln
Search 100 bp 5'
Search 100 bp 3'