Canonical Allele Identifier: CA4230712

Gene: GLI3

Linked Data

• ClinVar Variation Id: 1120233
• ClinVar RCV Id: RCV002246386 ; RCV002265029 ; RCV003264039
• dbSNP Id: rs781422192
• ExAC: 7:42012040 G / A
• gnomAD v2: 7-42012040-G-A
• gnomAD v3: 7-41972441-G-A
• gnomAD v4: 7-41972441-G-A
• COSMIC: COSM1450730
• MyVariant Identifiers: chr7:g.42012040G>A (hg19) ; chr7:g.41972441G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.41972441G>A , CM000669.2:g.41972441G>A	GRCh38
NC_000007.13:g.42012040G>A , CM000669.1:g.42012040G>A	GRCh37
NC_000007.12:g.41978565G>A	NCBI36
NG_008434.1:g.269579C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000395925.8:c.1999C>T MANE Select	ENSP00000379258.3:p.Arg667Ter
ENST00000677288.1:c.1825C>T	ENSP00000503986.1:p.Arg609Ter
ENST00000677605.1:c.1999C>T	ENSP00000503743.1:p.Arg667Ter
ENST00000678429.1:c.1999C>T	ENSP00000502957.1:p.Arg667Ter
ENST00000395925.7:c.1999C>T	ENSP00000379258.3:p.Arg667Ter
ENST00000464291.1:n.552C>T
ENST00000479210.1:n.1976C>T
NM_000168.5:c.1999C>T	NP_000159.3:p.Arg667Ter
XM_005249703.1:c.1999C>T	XP_005249760.1:p.Arg667Ter
XM_005249704.2:c.1999C>T	XP_005249761.1:p.Arg667Ter
XM_011515272.1:c.1999C>T	XP_011513574.1:p.Arg667Ter
XM_011515273.1:c.1999C>T	XP_011513575.1:p.Arg667Ter
XM_011515274.1:c.1822C>T	XP_011513576.1:p.Arg608Ter
XM_011515274.2:c.1822C>T	XP_011513576.1:p.Arg608Ter
XM_017011997.1:c.1996C>T	XP_016867486.1:p.Arg666Ter
NM_000168.6:c.1999C>T MANE Select	NP_000159.3:p.Arg667Ter