Canonical Allele Identifier: CA10629195

Gene: GLI3

Linked Data

• ClinVar Variation Id: 360194
• ClinVar RCV Id: RCV000275453 ; RCV000329369 ; RCV000386175
• dbSNP Id: rs76023240
• gnomAD v2: 7-42002841-T-A
• gnomAD v3: 7-41963243-T-A
• gnomAD v4: 7-41963243-T-A
• MyVariant Identifiers: chr7:g.42002841T>A (hg19) ; chr7:g.41963243T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.41963243T>A , CM000669.2:g.41963243T>A	GRCh38
NC_000007.13:g.42002841T>A , CM000669.1:g.42002841T>A	GRCh37
NC_000007.12:g.41969366T>A	NCBI36
NG_008434.1:g.278778A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000395925.8:c.*1087A>T MANE Select	ENSP00000379258.3:n.*1087A>T
ENST00000677288.1:c.*1087A>T	ENSP00000503986.1:n.*1087A>T
ENST00000677605.1:c.*1087A>T	ENSP00000503743.1:n.*1087A>T
ENST00000678429.1:c.*1087A>T	ENSP00000502957.1:n.*1087A>T
ENST00000395925.7:c.*1087A>T	ENSP00000379258.3:n.*1087A>T
NM_000168.5:c.*1087A>T	NP_000159.3:n.*1087A>T
XM_005249703.1:c.*1087A>T	XP_005249760.1:n.*1087A>T
XM_005249704.2:c.*1087A>T	XP_005249761.1:n.*1087A>T
XM_011515272.1:c.*1087A>T	XP_011513574.1:n.*1087A>T
XM_011515273.1:c.*1087A>T	XP_011513575.1:n.*1087A>T
XM_011515274.1:c.*1087A>T	XP_011513576.1:n.*1087A>T
NM_000168.6:c.*1087A>T MANE Select	NP_000159.3:n.*1087A>T