Canonical Allele Identifier: CA1754785030
Gene: SHH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.155812343G= , CM000669.2:g.155812343G= GRCh38
NC_000007.13:g.155605037G= , CM000669.1:g.155605037G= GRCh37
NC_000007.12:g.155297798G= NCBI36
NG_007504.2:g.4931C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000297261.7:c.-221C= MANE Select ENSP00000297261.2:n.-221C=
NM_000193.4:c.-221C= MANE Select NP_000184.1:n.-221C=