Canonical Allele Identifier: CA10623949

Gene: GLI3

Linked Data

• ClinVar Variation Id: 360168
• ClinVar RCV Id: RCV000291493 ; RCV000346447 ; RCV000386445
• dbSNP Id: rs886062314
• gnomAD v3: 7-41961865-C-G
• gnomAD v4: 7-41961865-C-G
• MyVariant Identifiers: chr7:g.42001463C>G (hg19) ; chr7:g.41961865C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.41961865C>G , CM000669.2:g.41961865C>G	GRCh38
NC_000007.13:g.42001463C>G , CM000669.1:g.42001463C>G	GRCh37
NC_000007.12:g.41967988C>G	NCBI36
NG_008434.1:g.280156G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000395925.8:c.*2465G>C MANE Select	ENSP00000379258.3:n.*2465G>C
ENST00000677288.1:c.*2465G>C	ENSP00000503986.1:n.*2465G>C
ENST00000677605.1:c.*2465G>C	ENSP00000503743.1:n.*2465G>C
ENST00000678429.1:c.*2465G>C	ENSP00000502957.1:n.*2465G>C
ENST00000395925.7:c.*2465G>C	ENSP00000379258.3:n.*2465G>C
NM_000168.5:c.*2465G>C	NP_000159.3:n.*2465G>C
XM_005249703.1:c.*2465G>C	XP_005249760.1:n.*2465G>C
XM_005249704.2:c.*2465G>C	XP_005249761.1:n.*2465G>C
XM_011515272.1:c.*2465G>C	XP_011513574.1:n.*2465G>C
XM_011515273.1:c.*2465G>C	XP_011513575.1:n.*2465G>C
XM_011515274.1:c.*2465G>C	XP_011513576.1:n.*2465G>C
NM_000168.6:c.*2465G>C MANE Select	NP_000159.3:n.*2465G>C