Canonical Allele Identifier: CA367320027

Gene: GLI3

Linked Data

• gnomAD v4: 7-41966174-C-A
• MyVariant Identifiers: chr7:g.42005772C>A (hg19) ; chr7:g.41966174C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.41966174C>A , CM000669.2:g.41966174C>A	GRCh38
NC_000007.13:g.42005772C>A , CM000669.1:g.42005772C>A	GRCh37
NC_000007.12:g.41972297C>A	NCBI36
NG_008434.1:g.275847G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000395925.8:c.2899G>T MANE Select	ENSP00000379258.3:p.Gly967Cys
ENST00000677288.1:c.2725G>T	ENSP00000503986.1:p.Gly909Cys
ENST00000677605.1:c.2899G>T	ENSP00000503743.1:p.Gly967Cys
ENST00000678429.1:c.2899G>T	ENSP00000502957.1:p.Gly967Cys
ENST00000395925.7:c.2899G>T	ENSP00000379258.3:p.Gly967Cys
ENST00000479210.1:n.2876G>T
NM_000168.5:c.2899G>T	NP_000159.3:p.Gly967Cys
XM_005249703.1:c.2899G>T	XP_005249760.1:p.Gly967Cys
XM_005249704.2:c.2899G>T	XP_005249761.1:p.Gly967Cys
XM_011515272.1:c.2899G>T	XP_011513574.1:p.Gly967Cys
XM_011515273.1:c.2899G>T	XP_011513575.1:p.Gly967Cys
XM_011515274.1:c.2722G>T	XP_011513576.1:p.Gly908Cys
XM_011515274.2:c.2722G>T	XP_011513576.1:p.Gly908Cys
XM_017011997.1:c.2896G>T	XP_016867486.1:p.Gly966Cys
NM_000168.6:c.2899G>T MANE Select	NP_000159.3:p.Gly967Cys