Canonical Allele Identifier: CA2685803661
Gene: SHH HGNC NCBI

Linked Data

gnomAD v4: 7-155812241-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.155812241C>A , CM000669.2:g.155812241C>A GRCh38
NC_000007.13:g.155604935C>A , CM000669.1:g.155604935C>A GRCh37
NC_000007.12:g.155297696C>A NCBI36
NG_007504.2:g.5033G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000297261.7:c.-119G>T MANE Select ENSP00000297261.2:n.-119G>T
ENST00000297261.6:c.-119G>T ENSP00000297261.2:n.-119G>T
NM_000193.2:c.-119G>T NP_000184.1:n.-119G>T
NM_000193.3:c.-119G>T NP_000184.1:n.-119G>T
NM_000193.4:c.-119G>T MANE Select NP_000184.1:n.-119G>T
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