Canonical Allele Identifier: CA209384

Gene: GLI3

Linked Data

• ClinVar Variation Id: 211082
• ClinVar RCV Id: RCV000194908 ; RCV000864279 ; RCV002492878
• dbSNP Id: rs75925934
• ExAC: 7:42065790 C / T
• gnomAD v2: 7-42065790-C-T
• gnomAD v3: 7-42026191-C-T
• gnomAD v4: 7-42026191-C-T
• MyVariant Identifiers: chr7:g.42065790C>T (hg19) ; chr7:g.42026191C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.42026191C>T , CM000669.2:g.42026191C>T	GRCh38
NC_000007.13:g.42065790C>T , CM000669.1:g.42065790C>T	GRCh37
NC_000007.12:g.42032315C>T	NCBI36
NG_008434.1:g.215829G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395925.8:c.1242+8G>A MANE Select	ENSP00000379258.3:n.1242+8G>A
ENST00000677288.1:c.1065+8G>A	ENSP00000503986.1:n.1065+8G>A
ENST00000677605.1:c.1242+8G>A	ENSP00000503743.1:n.1242+8G>A
ENST00000678429.1:c.1242+8G>A	ENSP00000502957.1:n.1242+8G>A
ENST00000395925.7:c.1242+8G>A	ENSP00000379258.3:n.1242+8G>A
ENST00000479210.1:n.1219+8G>A
NM_000168.5:c.1242+8G>A	NP_000159.3:n.1242+8G>A
XM_005249703.1:c.1242+8G>A	XP_005249760.1:n.1242+8G>A
XM_005249704.2:c.1242+8G>A	XP_005249761.1:n.1242+8G>A
XM_011515272.1:c.1242+8G>A	XP_011513574.1:n.1242+8G>A
XM_011515273.1:c.1242+8G>A	XP_011513575.1:n.1242+8G>A
XM_011515274.1:c.1065+8G>A	XP_011513576.1:n.1065+8G>A
XM_011515274.2:c.1065+8G>A	XP_011513576.1:n.1065+8G>A
XM_017011997.1:c.1239+8G>A	XP_016867486.1:n.1239+8G>A
NM_000168.6:c.1242+8G>A MANE Select	NP_000159.3:n.1242+8G>A