Canonical Allele Identifier: CA367319061

Gene: GLI3

Linked Data

• ClinVar Variation Id: 2026109
• ClinVar RCV Id: RCV002889144
• MyVariant Identifiers: chr7:g.42005524G>T (hg19) ; chr7:g.41965926G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.41965926G>T , CM000669.2:g.41965926G>T	GRCh38
NC_000007.13:g.42005524G>T , CM000669.1:g.42005524G>T	GRCh37
NC_000007.12:g.41972049G>T	NCBI36
NG_008434.1:g.276095C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395925.8:c.3147C>A MANE Select	ENSP00000379258.3:p.Tyr1049Ter
ENST00000677288.1:c.2973C>A	ENSP00000503986.1:p.Tyr991Ter
ENST00000677605.1:c.3147C>A	ENSP00000503743.1:p.Tyr1049Ter
ENST00000678429.1:c.3147C>A	ENSP00000502957.1:p.Tyr1049Ter
ENST00000395925.7:c.3147C>A	ENSP00000379258.3:p.Tyr1049Ter
ENST00000479210.1:n.3124C>A
NM_000168.5:c.3147C>A	NP_000159.3:p.Tyr1049Ter
XM_005249703.1:c.3147C>A	XP_005249760.1:p.Tyr1049Ter
XM_005249704.2:c.3147C>A	XP_005249761.1:p.Tyr1049Ter
XM_011515272.1:c.3147C>A	XP_011513574.1:p.Tyr1049Ter
XM_011515273.1:c.3147C>A	XP_011513575.1:p.Tyr1049Ter
XM_011515274.1:c.2970C>A	XP_011513576.1:p.Tyr990Ter
XM_011515274.2:c.2970C>A	XP_011513576.1:p.Tyr990Ter
XM_017011997.1:c.3144C>A	XP_016867486.1:p.Tyr1048Ter
NM_000168.6:c.3147C>A MANE Select	NP_000159.3:p.Tyr1049Ter