Canonical Allele Identifier: CA340833
Gene: SHH HGNC NCBI

Linked Data

ClinVar Variation Id: 8882
ClinVar RCV Id: RCV000009432
dbSNP Id: rs104894042

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.155803618A>T , CM000669.2:g.155803618A>T GRCh38
NC_000007.13:g.155596312A>T , CM000669.1:g.155596312A>T GRCh37
NC_000007.12:g.155289073A>T NCBI36
NG_007504.2:g.13656T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000297261.7:c.671T>A MANE Select ENSP00000297261.2:p.Val224Glu
ENST00000297261.6:c.671T>A ENSP00000297261.2:p.Val224Glu
ENST00000430104.5:c.301+2678T>A ENSP00000396621.1:n.301+2678T>A
ENST00000435425.1:c.301+2678T>A ENSP00000413871.1:n.301+2678T>A
ENST00000441114.5:c.301+2678T>A ENSP00000410546.1:n.301+2678T>A
NM_000193.2:c.671T>A NP_000184.1:p.Val224Glu
NM_000193.3:c.671T>A NP_000184.1:p.Val224Glu
NM_001310462.1:c.301+2678T>A NP_001297391.1:n.301+2678T>A
NR_132318.1:n.471+2678T>A
NR_132319.1:n.471+2678T>A
XM_011516479.1:c.410T>A XP_011514781.1:p.Val137Glu
XM_011516480.1:c.410T>A XP_011514782.1:p.Val137Glu
XM_011516481.1:c.410T>A XP_011514783.1:p.Val137Glu
XM_011516482.1:c.332T>A XP_011514784.1:p.Val111Glu
XM_011516479.2:c.410T>A XP_011514781.1:p.Val137Glu
XM_011516480.2:c.410T>A XP_011514782.1:p.Val137Glu
NM_000193.4:c.671T>A MANE Select NP_000184.1:p.Val224Glu
NM_001310462.2:c.301+2678T>A NP_001297391.1:n.301+2678T>A
NR_132318.2:n.562+2678T>A
NR_132319.2:n.562+2678T>A