Canonical Allele Identifier: CA12657703

Gene: SHH

Linked Data

• ClinVar Variation Id: 403436
• ClinVar RCV Id: RCV000456069 ; RCV001511009 ; RCV001672773
• dbSNP Id: rs9333594
• gnomAD v2: 7-155604941-C-T
• gnomAD v3: 7-155812247-C-T
• gnomAD v4: 7-155812247-C-T
• MyVariant Identifiers: chr7:g.155604941C>T (hg19) ; chr7:g.155812247C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.155812247C>T , CM000669.2:g.155812247C>T	GRCh38
NC_000007.13:g.155604941C>T , CM000669.1:g.155604941C>T	GRCh37
NC_000007.12:g.155297702C>T	NCBI36
NG_007504.2:g.5027G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297261.7:c.-125G>A MANE Select	ENSP00000297261.2:n.-125G>A
ENST00000297261.6:c.-125G>A	ENSP00000297261.2:n.-125G>A
NM_000193.2:c.-125G>A	NP_000184.1:n.-125G>A
NM_000193.3:c.-125G>A	NP_000184.1:n.-125G>A
NM_000193.4:c.-125G>A MANE Select	NP_000184.1:n.-125G>A