Canonical Allele Identifier: CA454537642

Gene: GLI3

Linked Data

• MyVariant Identifiers: chr7:g.42088229C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.42048630C>G , CM000669.2:g.42048630C>G	GRCh38
NC_000007.13:g.42088229C>G , CM000669.1:g.42088229C>G	GRCh37
NC_000007.12:g.42054754C>G	NCBI36
NG_008434.1:g.193390G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395925.8:c.540G>C MANE Select	ENSP00000379258.3:p.Arg180=
ENST00000677288.1:c.363G>C	ENSP00000503986.1:p.Arg121=
ENST00000677605.1:c.540G>C	ENSP00000503743.1:p.Arg180=
ENST00000678429.1:c.540G>C	ENSP00000502957.1:p.Arg180=
ENST00000395925.7:c.540G>C	ENSP00000379258.3:p.Arg180=
ENST00000448703.5:c.540G>C	ENSP00000406135.1:p.Arg180=
ENST00000479210.1:n.517G>C
NM_000168.5:c.540G>C	NP_000159.3:p.Arg180=
XM_005249703.1:c.540G>C	XP_005249760.1:p.Arg180=
XM_005249704.2:c.540G>C	XP_005249761.1:p.Arg180=
XM_011515272.1:c.540G>C	XP_011513574.1:p.Arg180=
XM_011515273.1:c.540G>C	XP_011513575.1:p.Arg180=
XM_011515274.1:c.363G>C	XP_011513576.1:p.Arg121=
XM_011515274.2:c.363G>C	XP_011513576.1:p.Arg121=
XM_017011997.1:c.537G>C	XP_016867486.1:p.Arg179=
NM_000168.6:c.540G>C MANE Select	NP_000159.3:p.Arg180=