Canonical Allele Identifier: CA10629128

Gene: GLI3

Linked Data

• ClinVar Variation Id: 360265
• ClinVar RCV Id: RCV000313234 ; RCV000345019 ; RCV000400341
• dbSNP Id: rs886062341
• gnomAD v4: 7-42236975-G-A
• MyVariant Identifiers: chr7:g.42276574G>A (hg19) ; chr7:g.42236975G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.42236975G>A , CM000669.2:g.42236975G>A	GRCh38
NC_000007.13:g.42276574G>A , CM000669.1:g.42276574G>A	GRCh37
NC_000007.12:g.42243099G>A	NCBI36
NG_008434.1:g.5045C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000395925.8:c.-47C>T MANE Select	ENSP00000379258.3:n.-47C>T
ENST00000428534.2:c.-43+809C>T	ENSP00000503957.1:n.-43+809C>T
ENST00000677605.1:c.-43+524C>T	ENSP00000503743.1:n.-43+524C>T
ENST00000677990.1:n.235C>T
ENST00000678978.1:c.-42-13680C>T	ENSP00000503352.1:n.-42-13680C>T
ENST00000395925.7:c.-47C>T	ENSP00000379258.3:n.-47C>T
ENST00000428534.1:n.87+809C>T
ENST00000437480.1:c.-47C>T	ENSP00000407963.1:n.-47C>T
NM_000168.5:c.-47C>T	NP_000159.3:n.-47C>T
XM_005249703.1:c.-43+809C>T	XP_005249760.1:n.-43+809C>T
XM_005249704.2:c.-43+524C>T	XP_005249761.1:n.-43+524C>T
XM_011515273.1:c.-42-13680C>T	XP_011513575.1:n.-42-13680C>T
NM_000168.6:c.-47C>T MANE Select	NP_000159.3:n.-47C>T