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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:
CA228760
Gene: VWF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
100450
ClinVar RCV Id:
RCV000086862
RCV000765102
RCV002265605
RCV003387761
dbSNP Id:
rs61750625
ExAC:
12:6094771 G / A
gnomAD v2:
12-6094771-G-A
gnomAD v3:
12-5985605-G-A
gnomAD v4:
12-5985605-G-A
MyVariant Identifiers:
chr12:g.6094771G>A (hg19)
chr12:g.5985605G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.5985605G>A , CM000674.2:g.5985605G>A
GRCh38
NC_000012.11:g.6094771G>A , CM000674.1:g.6094771G>A
GRCh37
NC_000012.10:g.5965032G>A
NCBI36
NG_009072.1:g.144066C>T
NG_009072.2:g.144066C>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000261405.10:c.6859C>T
MANE Select
ENSP00000261405.5:p.Arg2287Trp
ENST00000261405.9:c.6859C>T
ENSP00000261405.5:p.Arg2287Trp
NM_000552.3:c.6859C>T
NP_000543.2:p.Arg2287Trp
NM_000552.4:c.6859C>T
NP_000543.2:p.Arg2287Trp
NM_000552.5:c.6859C>T
MANE Select
NP_000543.3:p.Arg2287Trp
Search 100 bp 5'
Search 100 bp 3'