Canonical Allele Identifier: CA2685803882
Gene: SHH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.155812335C>G , CM000669.2:g.155812335C>G GRCh38
NC_000007.13:g.155605029C>G , CM000669.1:g.155605029C>G GRCh37
NC_000007.12:g.155297790C>G NCBI36
NG_007504.2:g.4939G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000297261.7:c.-213G>C MANE Select ENSP00000297261.2:n.-213G>C
NM_000193.4:c.-213G>C MANE Select NP_000184.1:n.-213G>C