Canonical Allele Identifier: CA1754785080
Gene: SHH HGNC NCBI

Linked Data

dbSNP Id: rs1803542352
gnomAD v4: 7-155812375-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.155812375A>G , CM000669.2:g.155812375A>G GRCh38
NC_000007.13:g.155605069A>G , CM000669.1:g.155605069A>G GRCh37
NC_000007.12:g.155297830A>G NCBI36
NG_007504.2:g.4899T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000297261.7:c.-253T>C MANE Select ENSP00000297261.2:n.-253T>C
NM_000193.4:c.-253T>C MANE Select NP_000184.1:n.-253T>C
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