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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:
CA340826
Gene: SHH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
8877
ClinVar RCV Id:
RCV000009427
dbSNP Id:
rs28936675
MyVariant Identifiers:
chr7:g.155604726C>T (hg19)
chr7:g.155812032C>T (hg38)
PubMed:
PMID:8896572
PMID:16282375
PMID:20301702
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.155812032C>T , CM000669.2:g.155812032C>T
GRCh38
NC_000007.13:g.155604726C>T , CM000669.1:g.155604726C>T
GRCh37
NC_000007.12:g.155297487C>T
NCBI36
NG_007504.2:g.5242G>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000297261.7:c.91G>A
MANE Select
ENSP00000297261.2:p.Gly31Arg
ENST00000297261.6:c.91G>A
ENSP00000297261.2:p.Gly31Arg
NM_000193.2:c.91G>A
NP_000184.1:p.Gly31Arg
NM_000193.3:c.91G>A
NP_000184.1:p.Gly31Arg
NM_000193.4:c.91G>A
MANE Select
NP_000184.1:p.Gly31Arg
Search 100 bp 5'
Search 100 bp 3'