Canonical Allele Identifier: CA4230834

Gene: GLI3

Linked Data

• ClinVar Variation Id: 284084
• ClinVar RCV Id: RCV000283177 ; RCV000290847 ; RCV000341599 ; RCV000380054 ; RCV002521915
• dbSNP Id: rs149248727
• ExAC: 7:42063079 C / T
• gnomAD v2: 7-42063079-C-T
• gnomAD v3: 7-42023480-C-T
• gnomAD v4: 7-42023480-C-T
• MyVariant Identifiers: chr7:g.42063079C>T (hg19) ; chr7:g.42023480C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.42023480C>T , CM000669.2:g.42023480C>T	GRCh38
NC_000007.13:g.42063079C>T , CM000669.1:g.42063079C>T	GRCh37
NC_000007.12:g.42029604C>T	NCBI36
NG_008434.1:g.218540G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395925.8:c.1485G>A MANE Select	ENSP00000379258.3:p.Glu495=
ENST00000677288.1:c.1311G>A	ENSP00000503986.1:p.Glu437=
ENST00000677605.1:c.1485G>A	ENSP00000503743.1:p.Glu495=
ENST00000678429.1:c.1485G>A	ENSP00000502957.1:p.Glu495=
ENST00000395925.7:c.1485G>A	ENSP00000379258.3:p.Glu495=
ENST00000479210.1:n.1462G>A
NM_000168.5:c.1485G>A	NP_000159.3:p.Glu495=
XM_005249703.1:c.1485G>A	XP_005249760.1:p.Glu495=
XM_005249704.2:c.1485G>A	XP_005249761.1:p.Glu495=
XM_011515272.1:c.1485G>A	XP_011513574.1:p.Glu495=
XM_011515273.1:c.1485G>A	XP_011513575.1:p.Glu495=
XM_011515274.1:c.1308G>A	XP_011513576.1:p.Glu436=
XM_011515274.2:c.1308G>A	XP_011513576.1:p.Glu436=
XM_017011997.1:c.1482G>A	XP_016867486.1:p.Glu494=
NM_000168.6:c.1485G>A MANE Select	NP_000159.3:p.Glu495=