Canonical Allele Identifier: CA4230439
Gene: GLI3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2526910
ClinVar RCV Id: RCV003285279
dbSNP Id: rs193053365
gnomAD v2: 7-42005531-T-G
gnomAD v3: 7-41965933-T-G
gnomAD v4: 7-41965933-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.41965933T>G , CM000669.2:g.41965933T>G GRCh38
NC_000007.13:g.42005531T>G , CM000669.1:g.42005531T>G GRCh37
NC_000007.12:g.41972056T>G NCBI36
NG_008434.1:g.276088A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000395925.8:c.3140A>C MANE Select ENSP00000379258.3:p.Gln1047Pro
ENST00000677288.1:c.2966A>C ENSP00000503986.1:p.Gln989Pro
ENST00000677605.1:c.3140A>C ENSP00000503743.1:p.Gln1047Pro
ENST00000678429.1:c.3140A>C ENSP00000502957.1:p.Gln1047Pro
ENST00000395925.7:c.3140A>C ENSP00000379258.3:p.Gln1047Pro
ENST00000479210.1:n.3117A>C
NM_000168.5:c.3140A>C NP_000159.3:p.Gln1047Pro
XM_005249703.1:c.3140A>C XP_005249760.1:p.Gln1047Pro
XM_005249704.2:c.3140A>C XP_005249761.1:p.Gln1047Pro
XM_011515272.1:c.3140A>C XP_011513574.1:p.Gln1047Pro
XM_011515273.1:c.3140A>C XP_011513575.1:p.Gln1047Pro
XM_011515274.1:c.2963A>C XP_011513576.1:p.Gln988Pro
XM_011515274.2:c.2963A>C XP_011513576.1:p.Gln988Pro
XM_017011997.1:c.3137A>C XP_016867486.1:p.Gln1046Pro
NM_000168.6:c.3140A>C MANE Select NP_000159.3:p.Gln1047Pro