Canonical Allele Identifier: CA4230402

Gene: GLI3

Linked Data

• dbSNP Id: rs769535212
• ExAC: 7:42005378 T / C
• gnomAD v2: 7-42005378-T-C
• gnomAD v4: 7-41965780-T-C
• MyVariant Identifiers: chr7:g.42005378T>C (hg19) ; chr7:g.41965780T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.41965780T>C , CM000669.2:g.41965780T>C	GRCh38
NC_000007.13:g.42005378T>C , CM000669.1:g.42005378T>C	GRCh37
NC_000007.12:g.41971903T>C	NCBI36
NG_008434.1:g.276241A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395925.8:c.3293A>G MANE Select	ENSP00000379258.3:p.Gln1098Arg
ENST00000677288.1:c.3119A>G	ENSP00000503986.1:p.Gln1040Arg
ENST00000677605.1:c.3293A>G	ENSP00000503743.1:p.Gln1098Arg
ENST00000678429.1:c.3293A>G	ENSP00000502957.1:p.Gln1098Arg
ENST00000395925.7:c.3293A>G	ENSP00000379258.3:p.Gln1098Arg
ENST00000479210.1:n.3270A>G
NM_000168.5:c.3293A>G	NP_000159.3:p.Gln1098Arg
XM_005249703.1:c.3293A>G	XP_005249760.1:p.Gln1098Arg
XM_005249704.2:c.3293A>G	XP_005249761.1:p.Gln1098Arg
XM_011515272.1:c.3293A>G	XP_011513574.1:p.Gln1098Arg
XM_011515273.1:c.3293A>G	XP_011513575.1:p.Gln1098Arg
XM_011515274.1:c.3116A>G	XP_011513576.1:p.Gln1039Arg
XM_011515274.2:c.3116A>G	XP_011513576.1:p.Gln1039Arg
XM_017011997.1:c.3290A>G	XP_016867486.1:p.Gln1097Arg
NM_000168.6:c.3293A>G MANE Select	NP_000159.3:p.Gln1098Arg