Canonical Allele Identifier: CA4230448
Gene: GLI3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2231511
ClinVar RCV Id: RCV002722809
dbSNP Id: rs769100742
gnomAD v2: 7-42005561-G-C
gnomAD v4: 7-41965963-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.41965963G>C , CM000669.2:g.41965963G>C GRCh38
NC_000007.13:g.42005561G>C , CM000669.1:g.42005561G>C GRCh37
NC_000007.12:g.41972086G>C NCBI36
NG_008434.1:g.276058C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000395925.8:c.3110C>G MANE Select ENSP00000379258.3:p.Thr1037Arg
ENST00000677288.1:c.2936C>G ENSP00000503986.1:p.Thr979Arg
ENST00000677605.1:c.3110C>G ENSP00000503743.1:p.Thr1037Arg
ENST00000678429.1:c.3110C>G ENSP00000502957.1:p.Thr1037Arg
ENST00000395925.7:c.3110C>G ENSP00000379258.3:p.Thr1037Arg
ENST00000479210.1:n.3087C>G
NM_000168.5:c.3110C>G NP_000159.3:p.Thr1037Arg
XM_005249703.1:c.3110C>G XP_005249760.1:p.Thr1037Arg
XM_005249704.2:c.3110C>G XP_005249761.1:p.Thr1037Arg
XM_011515272.1:c.3110C>G XP_011513574.1:p.Thr1037Arg
XM_011515273.1:c.3110C>G XP_011513575.1:p.Thr1037Arg
XM_011515274.1:c.2933C>G XP_011513576.1:p.Thr978Arg
XM_011515274.2:c.2933C>G XP_011513576.1:p.Thr978Arg
XM_017011997.1:c.3107C>G XP_016867486.1:p.Thr1036Arg
NM_000168.6:c.3110C>G MANE Select NP_000159.3:p.Thr1037Arg