Canonical Allele Identifier: CA169426595

Gene: SHH

Linked Data

• dbSNP Id: rs1007608173
• gnomAD v2: 7-155605072-G-A
• gnomAD v3: 7-155812378-G-A
• gnomAD v4: 7-155812378-G-A
• MyVariant Identifiers: chr7:g.155605072G>A (hg19) ; chr7:g.155812378G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.155812378G>A , CM000669.2:g.155812378G>A	GRCh38
NC_000007.13:g.155605072G>A , CM000669.1:g.155605072G>A	GRCh37
NC_000007.12:g.155297833G>A	NCBI36
NG_007504.2:g.4896C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297261.7:c.-256C>T MANE Select	ENSP00000297261.2:n.-256C>T
NM_000193.4:c.-256C>T MANE Select	NP_000184.1:n.-256C>T