Canonical Allele Identifier: CA4230743
Gene: GLI3 HGNC NCBI

Linked Data

ClinVar Variation Id: 360241
dbSNP Id: rs373687877
gnomAD v2: 7-42012194-A-G
gnomAD v3: 7-41972595-A-G
gnomAD v4: 7-41972595-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.41972595A>G , CM000669.2:g.41972595A>G GRCh38
NC_000007.13:g.42012194A>G , CM000669.1:g.42012194A>G GRCh37
NC_000007.12:g.41978719A>G NCBI36
NG_008434.1:g.269425T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000395925.8:c.1845T>C MANE Select ENSP00000379258.3:p.Thr615=
ENST00000677288.1:c.1671T>C ENSP00000503986.1:p.Thr557=
ENST00000677605.1:c.1845T>C ENSP00000503743.1:p.Thr615=
ENST00000678429.1:c.1845T>C ENSP00000502957.1:p.Thr615=
ENST00000395925.7:c.1845T>C ENSP00000379258.3:p.Thr615=
ENST00000464291.1:n.398T>C
ENST00000479210.1:n.1822T>C
NM_000168.5:c.1845T>C NP_000159.3:p.Thr615=
XM_005249703.1:c.1845T>C XP_005249760.1:p.Thr615=
XM_005249704.2:c.1845T>C XP_005249761.1:p.Thr615=
XM_011515272.1:c.1845T>C XP_011513574.1:p.Thr615=
XM_011515273.1:c.1845T>C XP_011513575.1:p.Thr615=
XM_011515274.1:c.1668T>C XP_011513576.1:p.Thr556=
XM_011515274.2:c.1668T>C XP_011513576.1:p.Thr556=
XM_017011997.1:c.1842T>C XP_016867486.1:p.Thr614=
NM_000168.6:c.1845T>C MANE Select NP_000159.3:p.Thr615=