Canonical Allele Identifier: CA4231042

Gene: GLI3

Linked Data

• ClinVar Variation Id: 2195269
• ClinVar RCV Id: RCV002647633
• dbSNP Id: rs369309115
• ExAC: 7:42079853 A / G
• gnomAD v2: 7-42079853-A-G
• gnomAD v3: 7-42040254-A-G
• gnomAD v4: 7-42040254-A-G
• MyVariant Identifiers: chr7:g.42079853A>G (hg19) ; chr7:g.42040254A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.42040254A>G , CM000669.2:g.42040254A>G	GRCh38
NC_000007.13:g.42079853A>G , CM000669.1:g.42079853A>G	GRCh37
NC_000007.12:g.42046378A>G	NCBI36
NG_008434.1:g.201766T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395925.8:c.827-15T>C MANE Select	ENSP00000379258.3:n.827-15T>C
ENST00000677288.1:c.650-15T>C	ENSP00000503986.1:n.650-15T>C
ENST00000677605.1:c.827-15T>C	ENSP00000503743.1:n.827-15T>C
ENST00000678429.1:c.827-15T>C	ENSP00000502957.1:n.827-15T>C
ENST00000395925.7:c.827-15T>C	ENSP00000379258.3:n.827-15T>C
ENST00000479210.1:n.804-15T>C
NM_000168.5:c.827-15T>C	NP_000159.3:n.827-15T>C
XM_005249703.1:c.827-15T>C	XP_005249760.1:n.827-15T>C
XM_005249704.2:c.827-15T>C	XP_005249761.1:n.827-15T>C
XM_011515272.1:c.827-15T>C	XP_011513574.1:n.827-15T>C
XM_011515273.1:c.827-15T>C	XP_011513575.1:n.827-15T>C
XM_011515274.1:c.650-15T>C	XP_011513576.1:n.650-15T>C
XM_011515274.2:c.650-15T>C	XP_011513576.1:n.650-15T>C
XM_017011997.1:c.824-15T>C	XP_016867486.1:n.824-15T>C
NM_000168.6:c.827-15T>C MANE Select	NP_000159.3:n.827-15T>C