Canonical Allele Identifier: CA454537668

Gene: GLI3

Linked Data

• MyVariant Identifiers: chr7:g.42088268C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.42048669C>G , CM000669.2:g.42048669C>G	GRCh38
NC_000007.13:g.42088268C>G , CM000669.1:g.42088268C>G	GRCh37
NC_000007.12:g.42054793C>G	NCBI36
NG_008434.1:g.193351G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395925.8:c.501G>C MANE Select	ENSP00000379258.3:p.Thr167=
ENST00000677288.1:c.324G>C	ENSP00000503986.1:p.Thr108=
ENST00000677605.1:c.501G>C	ENSP00000503743.1:p.Thr167=
ENST00000678429.1:c.501G>C	ENSP00000502957.1:p.Thr167=
ENST00000395925.7:c.501G>C	ENSP00000379258.3:p.Thr167=
ENST00000448703.5:c.501G>C	ENSP00000406135.1:p.Thr167=
ENST00000479210.1:n.478G>C
NM_000168.5:c.501G>C	NP_000159.3:p.Thr167=
XM_005249703.1:c.501G>C	XP_005249760.1:p.Thr167=
XM_005249704.2:c.501G>C	XP_005249761.1:p.Thr167=
XM_011515272.1:c.501G>C	XP_011513574.1:p.Thr167=
XM_011515273.1:c.501G>C	XP_011513575.1:p.Thr167=
XM_011515274.1:c.324G>C	XP_011513576.1:p.Thr108=
XM_011515274.2:c.324G>C	XP_011513576.1:p.Thr108=
XM_017011997.1:c.498G>C	XP_016867486.1:p.Thr166=
NM_000168.6:c.501G>C MANE Select	NP_000159.3:p.Thr167=