Canonical Allele Identifier: CA367319603

Gene: GLI3

Linked Data

• ClinVar Variation Id: 1722266
• ClinVar RCV Id: RCV002305412
• dbSNP Id: rs1175715941
• gnomAD v3: 7-41966088-G-T
• gnomAD v4: 7-41966088-G-T
• MyVariant Identifiers: chr7:g.42005686G>T (hg19) ; chr7:g.41966088G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.41966088G>T , CM000669.2:g.41966088G>T	GRCh38
NC_000007.13:g.42005686G>T , CM000669.1:g.42005686G>T	GRCh37
NC_000007.12:g.41972211G>T	NCBI36
NG_008434.1:g.275933C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395925.8:c.2985C>A MANE Select	ENSP00000379258.3:p.His995Gln
ENST00000677288.1:c.2811C>A	ENSP00000503986.1:p.His937Gln
ENST00000677605.1:c.2985C>A	ENSP00000503743.1:p.His995Gln
ENST00000678429.1:c.2985C>A	ENSP00000502957.1:p.His995Gln
ENST00000395925.7:c.2985C>A	ENSP00000379258.3:p.His995Gln
ENST00000479210.1:n.2962C>A
NM_000168.5:c.2985C>A	NP_000159.3:p.His995Gln
XM_005249703.1:c.2985C>A	XP_005249760.1:p.His995Gln
XM_005249704.2:c.2985C>A	XP_005249761.1:p.His995Gln
XM_011515272.1:c.2985C>A	XP_011513574.1:p.His995Gln
XM_011515273.1:c.2985C>A	XP_011513575.1:p.His995Gln
XM_011515274.1:c.2808C>A	XP_011513576.1:p.His936Gln
XM_011515274.2:c.2808C>A	XP_011513576.1:p.His936Gln
XM_017011997.1:c.2982C>A	XP_016867486.1:p.His994Gln
NM_000168.6:c.2985C>A MANE Select	NP_000159.3:p.His995Gln