Canonical Allele Identifier: CA4230907
Gene: GLI3 HGNC NCBI

Linked Data

ClinVar Variation Id: 255419
ClinVar RCV Id: RCV000251640
dbSNP Id: rs77659679
gnomAD v2: 7-42065016-T-G
gnomAD v3: 7-42025417-T-G
gnomAD v4: 7-42025417-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.42025417T>G , CM000669.2:g.42025417T>G GRCh38
NC_000007.13:g.42065016T>G , CM000669.1:g.42065016T>G GRCh37
NC_000007.12:g.42031541T>G NCBI36
NG_008434.1:g.216603A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000395925.8:c.1243-40A>C MANE Select ENSP00000379258.3:n.1243-40A>C
ENST00000677288.1:c.1066-37A>C ENSP00000503986.1:n.1066-37A>C
ENST00000677605.1:c.1243-40A>C ENSP00000503743.1:n.1243-40A>C
ENST00000678429.1:c.1243-40A>C ENSP00000502957.1:n.1243-40A>C
ENST00000395925.7:c.1243-40A>C ENSP00000379258.3:n.1243-40A>C
ENST00000479210.1:n.1220-40A>C
NM_000168.5:c.1243-40A>C NP_000159.3:n.1243-40A>C
XM_005249703.1:c.1243-40A>C XP_005249760.1:n.1243-40A>C
XM_005249704.2:c.1243-40A>C XP_005249761.1:n.1243-40A>C
XM_011515272.1:c.1243-40A>C XP_011513574.1:n.1243-40A>C
XM_011515273.1:c.1243-40A>C XP_011513575.1:n.1243-40A>C
XM_011515274.1:c.1066-40A>C XP_011513576.1:n.1066-40A>C
XM_011515274.2:c.1066-40A>C XP_011513576.1:n.1066-40A>C
XM_017011997.1:c.1240-40A>C XP_016867486.1:n.1240-40A>C
NM_000168.6:c.1243-40A>C MANE Select NP_000159.3:n.1243-40A>C