Canonical Allele Identifier: CA1754770928
Gene: SHH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.155805156C= , CM000669.2:g.155805156C= GRCh38
NC_000007.13:g.155597850C= , CM000669.1:g.155597850C= GRCh37
NC_000007.12:g.155290611C= NCBI36
NG_007504.2:g.12118G=

Transcript Alleles

HGVS Amino-acid Change
NM_000193.4:c.562+1140G= MANE Select NP_000184.1:n.562+1140G=
ENST00000297261.7:c.562+1140G= MANE Select ENSP00000297261.2:n.562+1140G=
NM_000193.2:c.562+1140G= NP_000184.1:n.562+1140G=
NM_000193.3:c.562+1140G= NP_000184.1:n.562+1140G=
NM_001310462.1:c.301+1140G= NP_001297391.1:n.301+1140G=
NM_001310462.2:c.301+1140G= NP_001297391.1:n.301+1140G=
NR_132318.1:n.471+1140G=
NR_132318.2:n.562+1140G=
NR_132319.1:n.471+1140G=
NR_132319.2:n.562+1140G=
ENST00000297261.6:c.562+1140G= ENSP00000297261.2:n.562+1140G=
ENST00000430104.5:c.301+1140G= ENSP00000396621.1:n.301+1140G=
ENST00000435425.1:c.301+1140G= ENSP00000413871.1:n.301+1140G=
ENST00000441114.5:c.301+1140G= ENSP00000410546.1:n.301+1140G=
XM_011516479.1:c.301+1140G= XP_011514781.1:n.301+1140G=
XM_011516479.2:c.301+1140G= XP_011514781.1:n.301+1140G=
XM_011516480.1:c.301+1140G= XP_011514782.1:n.301+1140G=
XM_011516480.2:c.301+1140G= XP_011514782.1:n.301+1140G=
XM_011516481.1:c.301+1140G= XP_011514783.1:n.301+1140G=
XM_011516482.1:c.223+1140G= XP_011514784.1:n.223+1140G=