Canonical Allele Identifier: CA578816867

Gene: SHH

Linked Data

• dbSNP Id: rs1481487167
• gnomAD v2: 7-155605064-C-G
• gnomAD v3: 7-155812370-C-G
• gnomAD v4: 7-155812370-C-G
• MyVariant Identifiers: chr7:g.155605064C>G (hg19) ; chr7:g.155812370C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.155812370C>G , CM000669.2:g.155812370C>G	GRCh38
NC_000007.13:g.155605064C>G , CM000669.1:g.155605064C>G	GRCh37
NC_000007.12:g.155297825C>G	NCBI36
NG_007504.2:g.4904G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297261.7:c.-248G>C MANE Select	ENSP00000297261.2:n.-248G>C
NM_000193.4:c.-248G>C MANE Select	NP_000184.1:n.-248G>C