Canonical Allele Identifier: CA169426536
Gene: SHH HGNC NCBI

Linked Data

dbSNP Id: rs56384836
gnomAD v2: 7-155604910-G-T
gnomAD v3: 7-155812216-G-T
gnomAD v4: 7-155812216-G-T
MyVariant Identifiers: chr7:g.155604910G>T (hg19) chr7:g.155812216G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.155812216G>T , CM000669.2:g.155812216G>T GRCh38
NC_000007.13:g.155604910G>T , CM000669.1:g.155604910G>T GRCh37
NC_000007.12:g.155297671G>T NCBI36
NG_007504.2:g.5058C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000297261.7:c.-94C>A MANE Select ENSP00000297261.2:n.-94C>A
ENST00000297261.6:c.-94C>A ENSP00000297261.2:n.-94C>A
NM_000193.2:c.-94C>A NP_000184.1:n.-94C>A
NM_000193.3:c.-94C>A NP_000184.1:n.-94C>A
NM_000193.4:c.-94C>A MANE Select NP_000184.1:n.-94C>A
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