Canonical Allele Identifier: CA458893497
Gene: SHH HGNC NCBI

Linked Data

ClinVar Variation Id: 1925189
ClinVar RCV Id: RCV002625922
dbSNP Id: rs1803533904
MyVariant Identifiers: chr7:g.155604724C>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.155812030C>A , CM000669.2:g.155812030C>A GRCh38
NC_000007.13:g.155604724C>A , CM000669.1:g.155604724C>A GRCh37
NC_000007.12:g.155297485C>A NCBI36
NG_007504.2:g.5244G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000297261.7:c.93G>T MANE Select ENSP00000297261.2:p.Gly31=
ENST00000297261.6:c.93G>T ENSP00000297261.2:p.Gly31=
NM_000193.2:c.93G>T NP_000184.1:p.Gly31=
NM_000193.3:c.93G>T NP_000184.1:p.Gly31=
NM_000193.4:c.93G>T MANE Select NP_000184.1:p.Gly31=
Search 100 bp 5'
Search 100 bp 3'