Canonical Allele Identifier: CA2685803765
Gene: SHH HGNC NCBI

Linked Data

gnomAD v4: 7-155812284-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.155812284C>A , CM000669.2:g.155812284C>A GRCh38
NC_000007.13:g.155604978C>A , CM000669.1:g.155604978C>A GRCh37
NC_000007.12:g.155297739C>A NCBI36
NG_007504.2:g.4990G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000297261.7:c.-162G>T MANE Select ENSP00000297261.2:n.-162G>T
NM_000193.4:c.-162G>T MANE Select NP_000184.1:n.-162G>T
Search 100 bp 5'
Search 100 bp 3'