Canonical Allele Identifier: CA4230710

Gene: GLI3

Linked Data

• ClinVar Variation Id: 375458
• ClinVar RCV Id: RCV000416503 ; RCV001255817 ; RCV001266646 ; RCV002469146 ; RCV002502450
• dbSNP Id: rs373926115
• ExAC: 7:42012039 C / A
• gnomAD v2: 7-42012039-C-A
• gnomAD v3: 7-41972440-C-A
• gnomAD v4: 7-41972440-C-A
• COSMIC: COSM5910570
• MyVariant Identifiers: chr7:g.42012039C>A (hg19) ; chr7:g.41972440C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.41972440C>A , CM000669.2:g.41972440C>A	GRCh38
NC_000007.13:g.42012039C>A , CM000669.1:g.42012039C>A	GRCh37
NC_000007.12:g.41978564C>A	NCBI36
NG_008434.1:g.269580G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000395925.8:c.2000G>T MANE Select	ENSP00000379258.3:p.Arg667Leu
ENST00000677288.1:c.1826G>T	ENSP00000503986.1:p.Arg609Leu
ENST00000677605.1:c.2000G>T	ENSP00000503743.1:p.Arg667Leu
ENST00000678429.1:c.2000G>T	ENSP00000502957.1:p.Arg667Leu
ENST00000395925.7:c.2000G>T	ENSP00000379258.3:p.Arg667Leu
ENST00000464291.1:n.553G>T
ENST00000479210.1:n.1977G>T
NM_000168.5:c.2000G>T	NP_000159.3:p.Arg667Leu
XM_005249703.1:c.2000G>T	XP_005249760.1:p.Arg667Leu
XM_005249704.2:c.2000G>T	XP_005249761.1:p.Arg667Leu
XM_011515272.1:c.2000G>T	XP_011513574.1:p.Arg667Leu
XM_011515273.1:c.2000G>T	XP_011513575.1:p.Arg667Leu
XM_011515274.1:c.1823G>T	XP_011513576.1:p.Arg608Leu
XM_011515274.2:c.1823G>T	XP_011513576.1:p.Arg608Leu
XM_017011997.1:c.1997G>T	XP_016867486.1:p.Arg666Leu
NM_000168.6:c.2000G>T MANE Select	NP_000159.3:p.Arg667Leu