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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:
CA340843
Gene: SHH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
8891
ClinVar RCV Id:
RCV000009441
dbSNP Id:
rs104894050
MyVariant Identifiers:
chr7:g.155604554T>A (hg19)
chr7:g.155811860T>A (hg38)
PubMed:
PMID:10556296
PMID:11919111
PMID:16282375
PMID:20301702
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.155811860T>A , CM000669.2:g.155811860T>A
GRCh38
NC_000007.13:g.155604554T>A , CM000669.1:g.155604554T>A
GRCh37
NC_000007.12:g.155297315T>A
NCBI36
NG_007504.2:g.5414A>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000297261.7:c.263A>T
MANE Select
ENSP00000297261.2:p.Asp88Val
ENST00000297261.6:c.263A>T
ENSP00000297261.2:p.Asp88Val
NM_000193.2:c.263A>T
NP_000184.1:p.Asp88Val
NM_000193.3:c.263A>T
NP_000184.1:p.Asp88Val
NM_000193.4:c.263A>T
MANE Select
NP_000184.1:p.Asp88Val
Search 100 bp 5'
Search 100 bp 3'