Canonical Allele Identifier: CA1109097353
Gene: SHH HGNC NCBI

Linked Data

dbSNP Id: rs1803540292
gnomAD v3: 7-155812257-C-T
gnomAD v4: 7-155812257-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.155812257C>T , CM000669.2:g.155812257C>T GRCh38
NC_000007.13:g.155604951C>T , CM000669.1:g.155604951C>T GRCh37
NC_000007.12:g.155297712C>T NCBI36
NG_007504.2:g.5017G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000297261.7:c.-135G>A MANE Select ENSP00000297261.2:n.-135G>A
ENST00000297261.6:c.-135G>A ENSP00000297261.2:n.-135G>A
NM_000193.2:c.-135G>A NP_000184.1:n.-135G>A
NM_000193.3:c.-135G>A NP_000184.1:n.-135G>A
NM_000193.4:c.-135G>A MANE Select NP_000184.1:n.-135G>A
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