Canonical Allele Identifier: CA2685803902
Gene: SHH HGNC NCBI

Linked Data

gnomAD v4: 7-155812347-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.155812347C>G , CM000669.2:g.155812347C>G GRCh38
NC_000007.13:g.155605041C>G , CM000669.1:g.155605041C>G GRCh37
NC_000007.12:g.155297802C>G NCBI36
NG_007504.2:g.4927G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000297261.7:c.-225G>C MANE Select ENSP00000297261.2:n.-225G>C
NM_000193.4:c.-225G>C MANE Select NP_000184.1:n.-225G>C
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