Canonical Allele Identifier: CA156913752

Gene: GLI3

Linked Data

• ClinVar Variation Id: 910858
• ClinVar RCV Id: RCV002067981
• dbSNP Id: rs867192725
• gnomAD v3: 7-41972436-C-T
• gnomAD v4: 7-41972436-C-T
• COSMIC: COSM5062462
• MyVariant Identifiers: chr7:g.42012035C>T (hg19) ; chr7:g.41972436C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.41972436C>T , CM000669.2:g.41972436C>T	GRCh38
NC_000007.13:g.42012035C>T , CM000669.1:g.42012035C>T	GRCh37
NC_000007.12:g.41978560C>T	NCBI36
NG_008434.1:g.269584G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000395925.8:c.2004G>A MANE Select	ENSP00000379258.3:p.Pro668=
ENST00000677288.1:c.1830G>A	ENSP00000503986.1:p.Pro610=
ENST00000677605.1:c.2004G>A	ENSP00000503743.1:p.Pro668=
ENST00000678429.1:c.2004G>A	ENSP00000502957.1:p.Pro668=
ENST00000395925.7:c.2004G>A	ENSP00000379258.3:p.Pro668=
ENST00000479210.1:n.1981G>A
NM_000168.5:c.2004G>A	NP_000159.3:p.Pro668=
XM_005249703.1:c.2004G>A	XP_005249760.1:p.Pro668=
XM_005249704.2:c.2004G>A	XP_005249761.1:p.Pro668=
XM_011515272.1:c.2004G>A	XP_011513574.1:p.Pro668=
XM_011515273.1:c.2004G>A	XP_011513575.1:p.Pro668=
XM_011515274.1:c.1827G>A	XP_011513576.1:p.Pro609=
XM_011515274.2:c.1827G>A	XP_011513576.1:p.Pro609=
XM_017011997.1:c.2001G>A	XP_016867486.1:p.Pro667=
NM_000168.6:c.2004G>A MANE Select	NP_000159.3:p.Pro668=