Canonical Allele Identifier: CA4230441
Gene: GLI3 HGNC NCBI

Linked Data

ClinVar Variation Id: 571948
ClinVar RCV Id: RCV000693216
dbSNP Id: rs747875277
gnomAD v2: 7-42005549-T-C
gnomAD v3: 7-41965951-T-C
gnomAD v4: 7-41965951-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.41965951T>C , CM000669.2:g.41965951T>C GRCh38
NC_000007.13:g.42005549T>C , CM000669.1:g.42005549T>C GRCh37
NC_000007.12:g.41972074T>C NCBI36
NG_008434.1:g.276070A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000395925.8:c.3122A>G MANE Select ENSP00000379258.3:p.Lys1041Arg
ENST00000677288.1:c.2948A>G ENSP00000503986.1:p.Lys983Arg
ENST00000677605.1:c.3122A>G ENSP00000503743.1:p.Lys1041Arg
ENST00000678429.1:c.3122A>G ENSP00000502957.1:p.Lys1041Arg
ENST00000395925.7:c.3122A>G ENSP00000379258.3:p.Lys1041Arg
ENST00000479210.1:n.3099A>G
NM_000168.5:c.3122A>G NP_000159.3:p.Lys1041Arg
XM_005249703.1:c.3122A>G XP_005249760.1:p.Lys1041Arg
XM_005249704.2:c.3122A>G XP_005249761.1:p.Lys1041Arg
XM_011515272.1:c.3122A>G XP_011513574.1:p.Lys1041Arg
XM_011515273.1:c.3122A>G XP_011513575.1:p.Lys1041Arg
XM_011515274.1:c.2945A>G XP_011513576.1:p.Lys982Arg
XM_011515274.2:c.2945A>G XP_011513576.1:p.Lys982Arg
XM_017011997.1:c.3119A>G XP_016867486.1:p.Lys1040Arg
NM_000168.6:c.3122A>G MANE Select NP_000159.3:p.Lys1041Arg