Canonical Allele Identifier: CA835742264

Gene: SHH

Linked Data

• dbSNP Id: rs1372134874
• gnomAD v3: 7-155812355-G-A
• gnomAD v4: 7-155812355-G-A
• MyVariant Identifiers: chr7:g.155605049G>A (hg19) ; chr7:g.155812355G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.155812355G>A , CM000669.2:g.155812355G>A	GRCh38
NC_000007.13:g.155605049G>A , CM000669.1:g.155605049G>A	GRCh37
NC_000007.12:g.155297810G>A	NCBI36
NG_007504.2:g.4919C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297261.7:c.-233C>T MANE Select	ENSP00000297261.2:n.-233C>T
NM_000193.4:c.-233C>T MANE Select	NP_000184.1:n.-233C>T