Canonical Allele Identifier: CA454663470

Gene: GLI3

Linked Data

• MyVariant Identifiers: chr7:g.42007387T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.41967789T>C , CM000669.2:g.41967789T>C	GRCh38
NC_000007.13:g.42007387T>C , CM000669.1:g.42007387T>C	GRCh37
NC_000007.12:g.41973912T>C	NCBI36
NG_008434.1:g.274232A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000395925.8:c.2238A>G MANE Select	ENSP00000379258.3:p.Glu746=
ENST00000677288.1:c.2064A>G	ENSP00000503986.1:p.Glu688=
ENST00000677605.1:c.2238A>G	ENSP00000503743.1:p.Glu746=
ENST00000678429.1:c.2238A>G	ENSP00000502957.1:p.Glu746=
ENST00000395925.7:c.2238A>G	ENSP00000379258.3:p.Glu746=
ENST00000479210.1:n.2215A>G
NM_000168.5:c.2238A>G	NP_000159.3:p.Glu746=
XM_005249703.1:c.2238A>G	XP_005249760.1:p.Glu746=
XM_005249704.2:c.2238A>G	XP_005249761.1:p.Glu746=
XM_011515272.1:c.2238A>G	XP_011513574.1:p.Glu746=
XM_011515273.1:c.2238A>G	XP_011513575.1:p.Glu746=
XM_011515274.1:c.2061A>G	XP_011513576.1:p.Glu687=
XM_011515274.2:c.2061A>G	XP_011513576.1:p.Glu687=
XM_017011997.1:c.2235A>G	XP_016867486.1:p.Glu745=
NM_000168.6:c.2238A>G MANE Select	NP_000159.3:p.Glu746=