Canonical Allele Identifier: CA1754784910
Gene: SHH HGNC NCBI

Linked Data

dbSNP Id: rs1803540942
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.155812302C>G , CM000669.2:g.155812302C>G GRCh38
NC_000007.13:g.155604996C>G , CM000669.1:g.155604996C>G GRCh37
NC_000007.12:g.155297757C>G NCBI36
NG_007504.2:g.4972G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000297261.7:c.-180G>C MANE Select ENSP00000297261.2:n.-180G>C
NM_000193.4:c.-180G>C MANE Select NP_000184.1:n.-180G>C
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