Canonical Allele Identifier: CA835742251

Gene: SHH

Linked Data

• dbSNP Id: rs1259795490
• gnomAD v4: 7-155812334-A-C
• MyVariant Identifiers: chr7:g.155605028A>C (hg19) ; chr7:g.155812334A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.155812334A>C , CM000669.2:g.155812334A>C	GRCh38
NC_000007.13:g.155605028A>C , CM000669.1:g.155605028A>C	GRCh37
NC_000007.12:g.155297789A>C	NCBI36
NG_007504.2:g.4940T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297261.7:c.-212T>G MANE Select	ENSP00000297261.2:n.-212T>G
NM_000193.4:c.-212T>G MANE Select	NP_000184.1:n.-212T>G