Canonical Allele Identifier: CA2685803945
Gene: SHH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.155812372G>C , CM000669.2:g.155812372G>C GRCh38
NC_000007.13:g.155605066G>C , CM000669.1:g.155605066G>C GRCh37
NC_000007.12:g.155297827G>C NCBI36
NG_007504.2:g.4902C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000297261.7:c.-250C>G MANE Select ENSP00000297261.2:n.-250C>G
NM_000193.4:c.-250C>G MANE Select NP_000184.1:n.-250C>G