Canonical Allele Identifier: CA370152396
Gene: SHH HGNC NCBI

Linked Data

dbSNP Id: rs1443838383
gnomAD v2: 7-155604732-C-T
gnomAD v3: 7-155812038-C-T
gnomAD v4: 7-155812038-C-T
COSMIC: COSM745729
MyVariant Identifiers: chr7:g.155604732C>T (hg19) chr7:g.155812038C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.155812038C>T , CM000669.2:g.155812038C>T GRCh38
NC_000007.13:g.155604732C>T , CM000669.1:g.155604732C>T GRCh37
NC_000007.12:g.155297493C>T NCBI36
NG_007504.2:g.5236G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000297261.7:c.85G>A MANE Select ENSP00000297261.2:p.Gly29Arg
ENST00000297261.6:c.85G>A ENSP00000297261.2:p.Gly29Arg
NM_000193.2:c.85G>A NP_000184.1:p.Gly29Arg
NM_000193.3:c.85G>A NP_000184.1:p.Gly29Arg
NM_000193.4:c.85G>A MANE Select NP_000184.1:p.Gly29Arg
Search 100 bp 5'
Search 100 bp 3'