Canonical Allele Identifier: CA345228
Gene: SHH HGNC NCBI

Linked Data

ClinVar Variation Id: 65892
ClinVar RCV Id: RCV000056137
dbSNP Id: rs587778806
gnomAD v2: 7-155596275-G-T
gnomAD v4: 7-155803581-G-T
MyVariant Identifiers: chr7:g.155596275G>T (hg19) chr7:g.155803581G>T (hg38)
PubMed: PMID:10556296 PMID:20301702
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.155803581G>T , CM000669.2:g.155803581G>T GRCh38
NC_000007.13:g.155596275G>T , CM000669.1:g.155596275G>T GRCh37
NC_000007.12:g.155289036G>T NCBI36
NG_007504.2:g.13693C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000297261.7:c.708C>A MANE Select ENSP00000297261.2:p.Ser236Arg
ENST00000297261.6:c.708C>A ENSP00000297261.2:p.Ser236Arg
ENST00000430104.5:c.301+2715C>A ENSP00000396621.1:n.301+2715C>A
ENST00000435425.1:c.301+2715C>A ENSP00000413871.1:n.301+2715C>A
ENST00000441114.5:c.301+2715C>A ENSP00000410546.1:n.301+2715C>A
NM_000193.2:c.708C>A NP_000184.1:p.Ser236Arg
NM_000193.3:c.708C>A NP_000184.1:p.Ser236Arg
NM_001310462.1:c.301+2715C>A NP_001297391.1:n.301+2715C>A
NR_132318.1:n.471+2715C>A
NR_132319.1:n.471+2715C>A
XM_011516479.1:c.447C>A XP_011514781.1:p.Ser149Arg
XM_011516480.1:c.447C>A XP_011514782.1:p.Ser149Arg
XM_011516481.1:c.447C>A XP_011514783.1:p.Ser149Arg
XM_011516482.1:c.369C>A XP_011514784.1:p.Ser123Arg
XM_011516479.2:c.447C>A XP_011514781.1:p.Ser149Arg
XM_011516480.2:c.447C>A XP_011514782.1:p.Ser149Arg
NM_000193.4:c.708C>A MANE Select NP_000184.1:p.Ser236Arg
NM_001310462.2:c.301+2715C>A NP_001297391.1:n.301+2715C>A
NR_132318.2:n.562+2715C>A
NR_132319.2:n.562+2715C>A
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