Canonical Allele Identifier: CA454662387

Gene: GLI3

Linked Data

• dbSNP Id: rs1787151053
• MyVariant Identifiers: chr7:g.42005323G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.41965725G>C , CM000669.2:g.41965725G>C	GRCh38
NC_000007.13:g.42005323G>C , CM000669.1:g.42005323G>C	GRCh37
NC_000007.12:g.41971848G>C	NCBI36
NG_008434.1:g.276296C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395925.8:c.3348C>G MANE Select	ENSP00000379258.3:p.Leu1116=
ENST00000677288.1:c.3174C>G	ENSP00000503986.1:p.Leu1058=
ENST00000677605.1:c.3348C>G	ENSP00000503743.1:p.Leu1116=
ENST00000678429.1:c.3348C>G	ENSP00000502957.1:p.Leu1116=
ENST00000395925.7:c.3348C>G	ENSP00000379258.3:p.Leu1116=
ENST00000479210.1:n.3325C>G
NM_000168.5:c.3348C>G	NP_000159.3:p.Leu1116=
XM_005249703.1:c.3348C>G	XP_005249760.1:p.Leu1116=
XM_005249704.2:c.3348C>G	XP_005249761.1:p.Leu1116=
XM_011515272.1:c.3348C>G	XP_011513574.1:p.Leu1116=
XM_011515273.1:c.3348C>G	XP_011513575.1:p.Leu1116=
XM_011515274.1:c.3171C>G	XP_011513576.1:p.Leu1057=
XM_011515274.2:c.3171C>G	XP_011513576.1:p.Leu1057=
XM_017011997.1:c.3345C>G	XP_016867486.1:p.Leu1115=
NM_000168.6:c.3348C>G MANE Select	NP_000159.3:p.Leu1116=