Canonical Allele Identifier: CA10626091

Gene: GLI3

Linked Data

• ClinVar Variation Id: 360216
• ClinVar RCV Id: RCV000279710 ; RCV000333142 ; RCV000371464
• dbSNP Id: rs531678760
• gnomAD v2: 7-42003743-C-T
• gnomAD v3: 7-41964145-C-T
• gnomAD v4: 7-41964145-C-T
• MyVariant Identifiers: chr7:g.42003743C>T (hg19) ; chr7:g.41964145C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.41964145C>T , CM000669.2:g.41964145C>T	GRCh38
NC_000007.13:g.42003743C>T , CM000669.1:g.42003743C>T	GRCh37
NC_000007.12:g.41970268C>T	NCBI36
NG_008434.1:g.277876G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395925.8:c.*185G>A MANE Select	ENSP00000379258.3:n.*185G>A
ENST00000677288.1:c.*185G>A	ENSP00000503986.1:n.*185G>A
ENST00000677605.1:c.*185G>A	ENSP00000503743.1:n.*185G>A
ENST00000678429.1:c.*185G>A	ENSP00000502957.1:n.*185G>A
ENST00000395925.7:c.*185G>A	ENSP00000379258.3:n.*185G>A
ENST00000479210.1:n.4905G>A
NM_000168.5:c.*185G>A	NP_000159.3:n.*185G>A
XM_005249703.1:c.*185G>A	XP_005249760.1:n.*185G>A
XM_005249704.2:c.*185G>A	XP_005249761.1:n.*185G>A
XM_011515272.1:c.*185G>A	XP_011513574.1:n.*185G>A
XM_011515273.1:c.*185G>A	XP_011513575.1:n.*185G>A
XM_011515274.1:c.*185G>A	XP_011513576.1:n.*185G>A
NM_000168.6:c.*185G>A MANE Select	NP_000159.3:n.*185G>A