Canonical Allele Identifier: CA4230708

Gene: GLI3

Linked Data

• ClinVar Variation Id: 2538476
• ClinVar RCV Id: RCV003291704
• dbSNP Id: rs758883352
• ExAC: 7:42012034 T / G
• gnomAD v2: 7-42012034-T-G
• gnomAD v3: 7-41972435-T-G
• gnomAD v4: 7-41972435-T-G
• MyVariant Identifiers: chr7:g.42012034T>G (hg19) ; chr7:g.41972435T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.41972435T>G , CM000669.2:g.41972435T>G	GRCh38
NC_000007.13:g.42012034T>G , CM000669.1:g.42012034T>G	GRCh37
NC_000007.12:g.41978559T>G	NCBI36
NG_008434.1:g.269585A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000395925.8:c.2005A>C MANE Select	ENSP00000379258.3:p.Thr669Pro
ENST00000677288.1:c.1831A>C	ENSP00000503986.1:p.Thr611Pro
ENST00000677605.1:c.2005A>C	ENSP00000503743.1:p.Thr669Pro
ENST00000678429.1:c.2005A>C	ENSP00000502957.1:p.Thr669Pro
ENST00000395925.7:c.2005A>C	ENSP00000379258.3:p.Thr669Pro
ENST00000479210.1:n.1982A>C
NM_000168.5:c.2005A>C	NP_000159.3:p.Thr669Pro
XM_005249703.1:c.2005A>C	XP_005249760.1:p.Thr669Pro
XM_005249704.2:c.2005A>C	XP_005249761.1:p.Thr669Pro
XM_011515272.1:c.2005A>C	XP_011513574.1:p.Thr669Pro
XM_011515273.1:c.2005A>C	XP_011513575.1:p.Thr669Pro
XM_011515274.1:c.1828A>C	XP_011513576.1:p.Thr610Pro
XM_011515274.2:c.1828A>C	XP_011513576.1:p.Thr610Pro
XM_017011997.1:c.2002A>C	XP_016867486.1:p.Thr668Pro
NM_000168.6:c.2005A>C MANE Select	NP_000159.3:p.Thr669Pro