Canonical Allele Identifier: CA2685803946
Gene: SHH HGNC NCBI

Linked Data

gnomAD v4: 7-155812372-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.155812372G>T , CM000669.2:g.155812372G>T GRCh38
NC_000007.13:g.155605066G>T , CM000669.1:g.155605066G>T GRCh37
NC_000007.12:g.155297827G>T NCBI36
NG_007504.2:g.4902C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000297261.7:c.-250C>A MANE Select ENSP00000297261.2:n.-250C>A
NM_000193.4:c.-250C>A MANE Select NP_000184.1:n.-250C>A
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Search 100 bp 3'