Canonical Allele Identifier: CA2685803523
Gene: SHH HGNC NCBI

Linked Data

gnomAD v4: 7-155812178-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.155812178T>C , CM000669.2:g.155812178T>C GRCh38
NC_000007.13:g.155604872T>C , CM000669.1:g.155604872T>C GRCh37
NC_000007.12:g.155297633T>C NCBI36
NG_007504.2:g.5096A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000297261.7:c.-56A>G MANE Select ENSP00000297261.2:n.-56A>G
ENST00000297261.6:c.-56A>G ENSP00000297261.2:n.-56A>G
NM_000193.2:c.-56A>G NP_000184.1:n.-56A>G
NM_000193.3:c.-56A>G NP_000184.1:n.-56A>G
NM_000193.4:c.-56A>G MANE Select NP_000184.1:n.-56A>G
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