Canonical Allele Identifier: CA2685803842
Gene: SHH HGNC NCBI

Linked Data

gnomAD v4: 7-155812317-A-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.155812317A>G , CM000669.2:g.155812317A>G GRCh38
NC_000007.13:g.155605011A>G , CM000669.1:g.155605011A>G GRCh37
NC_000007.12:g.155297772A>G NCBI36
NG_007504.2:g.4957T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000297261.7:c.-195T>C MANE Select ENSP00000297261.2:n.-195T>C
NM_000193.4:c.-195T>C MANE Select NP_000184.1:n.-195T>C
Search 100 bp 5'
Search 100 bp 3'