Canonical Allele Identifier: CA10629187

Gene: GLI3

Linked Data

• ClinVar Variation Id: 360165
• ClinVar RCV Id: RCV000260011 ; RCV000301159 ; RCV000355919 ; RCV003430937
• dbSNP Id: rs117987369
• gnomAD v2: 7-42001262-C-T
• gnomAD v3: 7-41961664-C-T
• gnomAD v4: 7-41961664-C-T
• MyVariant Identifiers: chr7:g.42001262C>T (hg19) ; chr7:g.41961664C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.41961664C>T , CM000669.2:g.41961664C>T	GRCh38
NC_000007.13:g.42001262C>T , CM000669.1:g.42001262C>T	GRCh37
NC_000007.12:g.41967787C>T	NCBI36
NG_008434.1:g.280357G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395925.8:c.*2666G>A MANE Select	ENSP00000379258.3:n.*2666G>A
ENST00000677288.1:c.*2666G>A	ENSP00000503986.1:n.*2666G>A
ENST00000677605.1:c.*2666G>A	ENSP00000503743.1:n.*2666G>A
ENST00000678429.1:c.*2666G>A	ENSP00000502957.1:n.*2666G>A
ENST00000395925.7:c.*2666G>A	ENSP00000379258.3:n.*2666G>A
NM_000168.5:c.*2666G>A	NP_000159.3:n.*2666G>A
XM_005249703.1:c.*2666G>A	XP_005249760.1:n.*2666G>A
XM_005249704.2:c.*2666G>A	XP_005249761.1:n.*2666G>A
XM_011515272.1:c.*2666G>A	XP_011513574.1:n.*2666G>A
XM_011515273.1:c.*2666G>A	XP_011513575.1:n.*2666G>A
XM_011515274.1:c.*2666G>A	XP_011513576.1:n.*2666G>A
NM_000168.6:c.*2666G>A MANE Select	NP_000159.3:n.*2666G>A