Canonical Allele Identifier: CA835742228
Gene: SHH HGNC NCBI

Linked Data

dbSNP Id: rs1405700003
gnomAD v3: 7-155812294-C-G
gnomAD v4: 7-155812294-C-G
MyVariant Identifiers: chr7:g.155604988C>G (hg19) chr7:g.155812294C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.155812294C>G , CM000669.2:g.155812294C>G GRCh38
NC_000007.13:g.155604988C>G , CM000669.1:g.155604988C>G GRCh37
NC_000007.12:g.155297749C>G NCBI36
NG_007504.2:g.4980G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000297261.7:c.-172G>C MANE Select ENSP00000297261.2:n.-172G>C
NM_000193.4:c.-172G>C MANE Select NP_000184.1:n.-172G>C
Search 100 bp 5'
Search 100 bp 3'