Canonical Allele Identifier: CA123498

Gene: GLI3

Linked Data

• ClinVar Variation Id: 13826
• ClinVar RCV Id: RCV000014837 ; RCV000014838 ; RCV000554724
• dbSNP Id: rs121917713
• gnomAD v4: 7-42040198-G-A
• MyVariant Identifiers: chr7:g.42079797G>A (hg19) ; chr7:g.42040198G>A (hg38)
• PubMed: PMID:6641002 ; PMID:15739154 ; PMID:15811011 ; PMID:18435847

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.42040198G>A , CM000669.2:g.42040198G>A	GRCh38
NC_000007.13:g.42079797G>A , CM000669.1:g.42079797G>A	GRCh37
NC_000007.12:g.42046322G>A	NCBI36
NG_008434.1:g.201822C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395925.8:c.868C>T MANE Select	ENSP00000379258.3:p.Arg290Ter
ENST00000677288.1:c.691C>T	ENSP00000503986.1:p.Arg231Ter
ENST00000677605.1:c.868C>T	ENSP00000503743.1:p.Arg290Ter
ENST00000678429.1:c.868C>T	ENSP00000502957.1:p.Arg290Ter
ENST00000395925.7:c.868C>T	ENSP00000379258.3:p.Arg290Ter
ENST00000479210.1:n.845C>T
NM_000168.5:c.868C>T	NP_000159.3:p.Arg290Ter
XM_005249703.1:c.868C>T	XP_005249760.1:p.Arg290Ter
XM_005249704.2:c.868C>T	XP_005249761.1:p.Arg290Ter
XM_011515272.1:c.868C>T	XP_011513574.1:p.Arg290Ter
XM_011515273.1:c.868C>T	XP_011513575.1:p.Arg290Ter
XM_011515274.1:c.691C>T	XP_011513576.1:p.Arg231Ter
XM_011515274.2:c.691C>T	XP_011513576.1:p.Arg231Ter
XM_017011997.1:c.865C>T	XP_016867486.1:p.Arg289Ter
NM_000168.6:c.868C>T MANE Select	NP_000159.3:p.Arg290Ter