Canonical Allele Identifier: CA1754784651
Gene: SHH HGNC NCBI

Linked Data

dbSNP Id: rs1335109811
gnomAD v4: 7-155812169-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.155812169G>C , CM000669.2:g.155812169G>C GRCh38
NC_000007.13:g.155604863G>C , CM000669.1:g.155604863G>C GRCh37
NC_000007.12:g.155297624G>C NCBI36
NG_007504.2:g.5105C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000297261.7:c.-47C>G MANE Select ENSP00000297261.2:n.-47C>G
ENST00000297261.6:c.-47C>G ENSP00000297261.2:n.-47C>G
NM_000193.2:c.-47C>G NP_000184.1:n.-47C>G
NM_000193.3:c.-47C>G NP_000184.1:n.-47C>G
NM_000193.4:c.-47C>G MANE Select NP_000184.1:n.-47C>G
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