Canonical Allele Identifier: CA12657703
Gene: SHH HGNC NCBI

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)
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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
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