Canonical Allele Identifier: CA2685803775
Gene: SHH HGNC NCBI

Linked Data

gnomAD v4: 7-155812288-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.155812288T>G , CM000669.2:g.155812288T>G GRCh38
NC_000007.13:g.155604982T>G , CM000669.1:g.155604982T>G GRCh37
NC_000007.12:g.155297743T>G NCBI36
NG_007504.2:g.4986A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000297261.7:c.-166A>C MANE Select ENSP00000297261.2:n.-166A>C
NM_000193.4:c.-166A>C MANE Select NP_000184.1:n.-166A>C
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