Canonical Allele Identifier: CA2685803737
Gene: SHH HGNC NCBI

Linked Data

gnomAD v4: 7-155812268-C-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.155812268C>A , CM000669.2:g.155812268C>A GRCh38
NC_000007.13:g.155604962C>A , CM000669.1:g.155604962C>A GRCh37
NC_000007.12:g.155297723C>A NCBI36
NG_007504.2:g.5006G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000297261.7:c.-146G>T MANE Select ENSP00000297261.2:n.-146G>T
ENST00000297261.6:c.-146G>T ENSP00000297261.2:n.-146G>T
NM_000193.2:c.-146G>T NP_000184.1:n.-146G>T
NM_000193.3:c.-146G>T NP_000184.1:n.-146G>T
NM_000193.4:c.-146G>T MANE Select NP_000184.1:n.-146G>T
Search 100 bp 5'
Search 100 bp 3'