Canonical Allele Identifier: CA1754784994
Gene: SHH HGNC NCBI

Linked Data

dbSNP Id: rs1803541559

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.155812330C>A , CM000669.2:g.155812330C>A GRCh38
NC_000007.13:g.155605024C>A , CM000669.1:g.155605024C>A GRCh37
NC_000007.12:g.155297785C>A NCBI36
NG_007504.2:g.4944G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000297261.7:c.-208G>T MANE Select ENSP00000297261.2:n.-208G>T
NM_000193.4:c.-208G>T MANE Select NP_000184.1:n.-208G>T