Canonical Allele Identifier: CA4230711
Gene: GLI3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2149763
ClinVar RCV Id: RCV003065649
dbSNP Id: rs373926115
gnomAD v2: 7-42012039-C-T
gnomAD v3: 7-41972440-C-T
gnomAD v4: 7-41972440-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.41972440C>T , CM000669.2:g.41972440C>T GRCh38
NC_000007.13:g.42012039C>T , CM000669.1:g.42012039C>T GRCh37
NC_000007.12:g.41978564C>T NCBI36
NG_008434.1:g.269580G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000395925.8:c.2000G>A MANE Select ENSP00000379258.3:p.Arg667Gln
ENST00000677288.1:c.1826G>A ENSP00000503986.1:p.Arg609Gln
ENST00000677605.1:c.2000G>A ENSP00000503743.1:p.Arg667Gln
ENST00000678429.1:c.2000G>A ENSP00000502957.1:p.Arg667Gln
ENST00000395925.7:c.2000G>A ENSP00000379258.3:p.Arg667Gln
ENST00000464291.1:n.553G>A
ENST00000479210.1:n.1977G>A
NM_000168.5:c.2000G>A NP_000159.3:p.Arg667Gln
XM_005249703.1:c.2000G>A XP_005249760.1:p.Arg667Gln
XM_005249704.2:c.2000G>A XP_005249761.1:p.Arg667Gln
XM_011515272.1:c.2000G>A XP_011513574.1:p.Arg667Gln
XM_011515273.1:c.2000G>A XP_011513575.1:p.Arg667Gln
XM_011515274.1:c.1823G>A XP_011513576.1:p.Arg608Gln
XM_011515274.2:c.1823G>A XP_011513576.1:p.Arg608Gln
XM_017011997.1:c.1997G>A XP_016867486.1:p.Arg666Gln
NM_000168.6:c.2000G>A MANE Select NP_000159.3:p.Arg667Gln