Canonical Allele Identifier: CA4230443

Gene: GLI3

Linked Data

• ClinVar Variation Id: 265182
• ClinVar RCV Id: RCV000255158 ; RCV000273966 ; RCV000329014 ; RCV000387520 ; RCV000764715
• dbSNP Id: rs772839719
• ExAC: 7:42005553 C / T
• gnomAD v2: 7-42005553-C-T
• gnomAD v4: 7-41965955-C-T
• MyVariant Identifiers: chr7:g.42005553C>T (hg19) ; chr7:g.41965955C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.41965955C>T , CM000669.2:g.41965955C>T	GRCh38
NC_000007.13:g.42005553C>T , CM000669.1:g.42005553C>T	GRCh37
NC_000007.12:g.41972078C>T	NCBI36
NG_008434.1:g.276066G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395925.8:c.3118G>A MANE Select	ENSP00000379258.3:p.Glu1040Lys
ENST00000677288.1:c.2944G>A	ENSP00000503986.1:p.Glu982Lys
ENST00000677605.1:c.3118G>A	ENSP00000503743.1:p.Glu1040Lys
ENST00000678429.1:c.3118G>A	ENSP00000502957.1:p.Glu1040Lys
ENST00000395925.7:c.3118G>A	ENSP00000379258.3:p.Glu1040Lys
ENST00000479210.1:n.3095G>A
NM_000168.5:c.3118G>A	NP_000159.3:p.Glu1040Lys
XM_005249703.1:c.3118G>A	XP_005249760.1:p.Glu1040Lys
XM_005249704.2:c.3118G>A	XP_005249761.1:p.Glu1040Lys
XM_011515272.1:c.3118G>A	XP_011513574.1:p.Glu1040Lys
XM_011515273.1:c.3118G>A	XP_011513575.1:p.Glu1040Lys
XM_011515274.1:c.2941G>A	XP_011513576.1:p.Glu981Lys
XM_011515274.2:c.2941G>A	XP_011513576.1:p.Glu981Lys
XM_017011997.1:c.3115G>A	XP_016867486.1:p.Glu1039Lys
NM_000168.6:c.3118G>A MANE Select	NP_000159.3:p.Glu1040Lys