Canonical Allele Identifier: CA367322107

Gene: GLI3

Linked Data

• MyVariant Identifiers: chr7:g.42012042C>G (hg19) ; chr7:g.41972443C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.41972443C>G , CM000669.2:g.41972443C>G	GRCh38
NC_000007.13:g.42012042C>G , CM000669.1:g.42012042C>G	GRCh37
NC_000007.12:g.41978567C>G	NCBI36
NG_008434.1:g.269577G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395925.8:c.1997G>C MANE Select	ENSP00000379258.3:p.Gly666Ala
ENST00000677288.1:c.1823G>C	ENSP00000503986.1:p.Gly608Ala
ENST00000677605.1:c.1997G>C	ENSP00000503743.1:p.Gly666Ala
ENST00000678429.1:c.1997G>C	ENSP00000502957.1:p.Gly666Ala
ENST00000395925.7:c.1997G>C	ENSP00000379258.3:p.Gly666Ala
ENST00000464291.1:n.550G>C
ENST00000479210.1:n.1974G>C
NM_000168.5:c.1997G>C	NP_000159.3:p.Gly666Ala
XM_005249703.1:c.1997G>C	XP_005249760.1:p.Gly666Ala
XM_005249704.2:c.1997G>C	XP_005249761.1:p.Gly666Ala
XM_011515272.1:c.1997G>C	XP_011513574.1:p.Gly666Ala
XM_011515273.1:c.1997G>C	XP_011513575.1:p.Gly666Ala
XM_011515274.1:c.1820G>C	XP_011513576.1:p.Gly607Ala
XM_011515274.2:c.1820G>C	XP_011513576.1:p.Gly607Ala
XM_017011997.1:c.1994G>C	XP_016867486.1:p.Gly665Ala
NM_000168.6:c.1997G>C MANE Select	NP_000159.3:p.Gly666Ala