Canonical Allele Identifier: CA4231162
Gene: GLI3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2926505
ClinVar RCV Id: RCV003788743
dbSNP Id: rs756865273
gnomAD v2: 7-42088282-A-G
gnomAD v3: 7-42048683-A-G
gnomAD v4: 7-42048683-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.42048683A>G , CM000669.2:g.42048683A>G GRCh38
NC_000007.13:g.42088282A>G , CM000669.1:g.42088282A>G GRCh37
NC_000007.12:g.42054807A>G NCBI36
NG_008434.1:g.193337T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000395925.8:c.487T>C MANE Select ENSP00000379258.3:p.Ser163Pro
ENST00000677288.1:c.310T>C ENSP00000503986.1:p.Ser104Pro
ENST00000677605.1:c.487T>C ENSP00000503743.1:p.Ser163Pro
ENST00000678429.1:c.487T>C ENSP00000502957.1:p.Ser163Pro
ENST00000395925.7:c.487T>C ENSP00000379258.3:p.Ser163Pro
ENST00000448703.5:c.487T>C ENSP00000406135.1:p.Ser163Pro
ENST00000479210.1:n.464T>C
NM_000168.5:c.487T>C NP_000159.3:p.Ser163Pro
XM_005249703.1:c.487T>C XP_005249760.1:p.Ser163Pro
XM_005249704.2:c.487T>C XP_005249761.1:p.Ser163Pro
XM_011515272.1:c.487T>C XP_011513574.1:p.Ser163Pro
XM_011515273.1:c.487T>C XP_011513575.1:p.Ser163Pro
XM_011515274.1:c.310T>C XP_011513576.1:p.Ser104Pro
XM_011515274.2:c.310T>C XP_011513576.1:p.Ser104Pro
XM_017011997.1:c.484T>C XP_016867486.1:p.Ser162Pro
NM_000168.6:c.487T>C MANE Select NP_000159.3:p.Ser163Pro