Canonical Allele Identifier: CA4231240

Gene: GLI3

Linked Data

• ClinVar Variation Id: 360260
• ClinVar RCV Id: RCV000270860 ; RCV000307311 ; RCV000370048 ; RCV000501667 ; RCV000513753 ; RCV001085140 ; RCV002502387 ; RCV003922597
• dbSNP Id: rs146458902
• ExAC: 7:42187851 C / T
• gnomAD v2: 7-42187851-C-T
• gnomAD v3: 7-42148252-C-T
• gnomAD v4: 7-42148252-C-T
• MyVariant Identifiers: chr7:g.42187851C>T (hg19) ; chr7:g.42148252C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.42148252C>T , CM000669.2:g.42148252C>T	GRCh38
NC_000007.13:g.42187851C>T , CM000669.1:g.42187851C>T	GRCh37
NC_000007.12:g.42154376C>T	NCBI36
NG_008434.1:g.93768G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000395925.8:c.341G>A MANE Select	ENSP00000379258.3:p.Arg114Lys
ENST00000642432.1:c.164G>A	ENSP00000495498.1:p.Arg55Lys
ENST00000643264.1:c.164G>A	ENSP00000495207.1:p.Arg55Lys
ENST00000647255.1:c.164G>A	ENSP00000495745.1:p.Arg55Lys
ENST00000677288.1:c.164G>A	ENSP00000503986.1:p.Arg55Lys
ENST00000677605.1:c.341G>A	ENSP00000503743.1:p.Arg114Lys
ENST00000678429.1:c.341G>A	ENSP00000502957.1:p.Arg114Lys
ENST00000395925.7:c.341G>A	ENSP00000379258.3:p.Arg114Lys
ENST00000448703.5:c.341G>A	ENSP00000406135.1:p.Arg114Lys
ENST00000479210.1:n.318G>A
NM_000168.5:c.341G>A	NP_000159.3:p.Arg114Lys
XM_005249703.1:c.341G>A	XP_005249760.1:p.Arg114Lys
XM_005249704.2:c.341G>A	XP_005249761.1:p.Arg114Lys
XM_011515272.1:c.341G>A	XP_011513574.1:p.Arg114Lys
XM_011515273.1:c.341G>A	XP_011513575.1:p.Arg114Lys
XM_011515274.1:c.164G>A	XP_011513576.1:p.Arg55Lys
XM_011515274.2:c.164G>A	XP_011513576.1:p.Arg55Lys
XM_017011997.1:c.338G>A	XP_016867486.1:p.Arg113Lys
NM_000168.6:c.341G>A MANE Select	NP_000159.3:p.Arg114Lys