Canonical Allele Identifier: CA2685803769
Gene: SHH HGNC NCBI

Linked Data

gnomAD v4: 7-155812287-A-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.155812287A>C , CM000669.2:g.155812287A>C GRCh38
NC_000007.13:g.155604981A>C , CM000669.1:g.155604981A>C GRCh37
NC_000007.12:g.155297742A>C NCBI36
NG_007504.2:g.4987T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000297261.7:c.-165T>G MANE Select ENSP00000297261.2:n.-165T>G
NM_000193.4:c.-165T>G MANE Select NP_000184.1:n.-165T>G
Search 100 bp 5'
Search 100 bp 3'