Canonical Allele Identifier: CA4231263

Gene: GLI3

Linked Data

• ClinVar Variation Id: 360261
• ClinVar RCV Id: RCV000271591 ; RCV000322548 ; RCV000366715 ; RCV000503086 ; RCV000634041 ; RCV002488806
• dbSNP Id: rs115137047
• ExAC: 7:42187912 G / A
• gnomAD v2: 7-42187912-G-A
• gnomAD v3: 7-42148313-G-A
• gnomAD v4: 7-42148313-G-A
• MyVariant Identifiers: chr7:g.42187912G>A (hg19) ; chr7:g.42148313G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.42148313G>A , CM000669.2:g.42148313G>A	GRCh38
NC_000007.13:g.42187912G>A , CM000669.1:g.42187912G>A	GRCh37
NC_000007.12:g.42154437G>A	NCBI36
NG_008434.1:g.93707C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395925.8:c.280C>T MANE Select	ENSP00000379258.3:p.Leu94=
ENST00000642432.1:c.103C>T	ENSP00000495498.1:p.Leu35=
ENST00000643264.1:c.103C>T	ENSP00000495207.1:p.Leu35=
ENST00000647255.1:c.103C>T	ENSP00000495745.1:p.Leu35=
ENST00000677288.1:c.103C>T	ENSP00000503986.1:p.Leu35=
ENST00000677605.1:c.280C>T	ENSP00000503743.1:p.Leu94=
ENST00000678429.1:c.280C>T	ENSP00000502957.1:p.Leu94=
ENST00000395925.7:c.280C>T	ENSP00000379258.3:p.Leu94=
ENST00000448703.5:c.280C>T	ENSP00000406135.1:p.Leu94=
ENST00000479210.1:n.257C>T
NM_000168.5:c.280C>T	NP_000159.3:p.Leu94=
XM_005249703.1:c.280C>T	XP_005249760.1:p.Leu94=
XM_005249704.2:c.280C>T	XP_005249761.1:p.Leu94=
XM_011515272.1:c.280C>T	XP_011513574.1:p.Leu94=
XM_011515273.1:c.280C>T	XP_011513575.1:p.Leu94=
XM_011515274.1:c.103C>T	XP_011513576.1:p.Leu35=
XM_011515274.2:c.103C>T	XP_011513576.1:p.Leu35=
XM_017011997.1:c.277C>T	XP_016867486.1:p.Leu93=
NM_000168.6:c.280C>T MANE Select	NP_000159.3:p.Leu94=