Canonical Allele Identifier: CA367318723

Gene: GLI3

Linked Data

• ClinVar Variation Id: 435332
• ClinVar RCV Id: RCV000503551 ; RCV000764714
• dbSNP Id: rs1554304659
• MyVariant Identifiers: chr7:g.42005387T>C (hg19) ; chr7:g.41965789T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.41965789T>C , CM000669.2:g.41965789T>C	GRCh38
NC_000007.13:g.42005387T>C , CM000669.1:g.42005387T>C	GRCh37
NC_000007.12:g.41971912T>C	NCBI36
NG_008434.1:g.276232A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395925.8:c.3284A>G MANE Select	ENSP00000379258.3:p.Asp1095Gly
ENST00000677288.1:c.3110A>G	ENSP00000503986.1:p.Asp1037Gly
ENST00000677605.1:c.3284A>G	ENSP00000503743.1:p.Asp1095Gly
ENST00000678429.1:c.3284A>G	ENSP00000502957.1:p.Asp1095Gly
ENST00000395925.7:c.3284A>G	ENSP00000379258.3:p.Asp1095Gly
ENST00000479210.1:n.3261A>G
NM_000168.5:c.3284A>G	NP_000159.3:p.Asp1095Gly
XM_005249703.1:c.3284A>G	XP_005249760.1:p.Asp1095Gly
XM_005249704.2:c.3284A>G	XP_005249761.1:p.Asp1095Gly
XM_011515272.1:c.3284A>G	XP_011513574.1:p.Asp1095Gly
XM_011515273.1:c.3284A>G	XP_011513575.1:p.Asp1095Gly
XM_011515274.1:c.3107A>G	XP_011513576.1:p.Asp1036Gly
XM_011515274.2:c.3107A>G	XP_011513576.1:p.Asp1036Gly
XM_017011997.1:c.3281A>G	XP_016867486.1:p.Asp1094Gly
NM_000168.6:c.3284A>G MANE Select	NP_000159.3:p.Asp1095Gly