Canonical Allele Identifier: CA367319076

Gene: GLI3

Linked Data

• COSMIC: COSM387753
• MyVariant Identifiers: chr7:g.42005530C>A (hg19) ; chr7:g.41965932C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.41965932C>A , CM000669.2:g.41965932C>A	GRCh38
NC_000007.13:g.42005530C>A , CM000669.1:g.42005530C>A	GRCh37
NC_000007.12:g.41972055C>A	NCBI36
NG_008434.1:g.276089G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395925.8:c.3141G>T MANE Select	ENSP00000379258.3:p.Gln1047His
ENST00000677288.1:c.2967G>T	ENSP00000503986.1:p.Gln989His
ENST00000677605.1:c.3141G>T	ENSP00000503743.1:p.Gln1047His
ENST00000678429.1:c.3141G>T	ENSP00000502957.1:p.Gln1047His
ENST00000395925.7:c.3141G>T	ENSP00000379258.3:p.Gln1047His
ENST00000479210.1:n.3118G>T
NM_000168.5:c.3141G>T	NP_000159.3:p.Gln1047His
XM_005249703.1:c.3141G>T	XP_005249760.1:p.Gln1047His
XM_005249704.2:c.3141G>T	XP_005249761.1:p.Gln1047His
XM_011515272.1:c.3141G>T	XP_011513574.1:p.Gln1047His
XM_011515273.1:c.3141G>T	XP_011513575.1:p.Gln1047His
XM_011515274.1:c.2964G>T	XP_011513576.1:p.Gln988His
XM_011515274.2:c.2964G>T	XP_011513576.1:p.Gln988His
XM_017011997.1:c.3138G>T	XP_016867486.1:p.Gln1046His
NM_000168.6:c.3141G>T MANE Select	NP_000159.3:p.Gln1047His