Canonical Allele Identifier: CA256980

Gene: GLI3

Linked Data

• ClinVar Variation Id: 13822
• ClinVar RCV Id: RCV000014833
• dbSNP Id: rs121917711
• MyVariant Identifiers: chr7:g.42018218C>A (hg19) ; chr7:g.41978619C>A (hg38)
• PubMed: PMID:10441342 ; PMID:10678662

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.41978619C>A , CM000669.2:g.41978619C>A	GRCh38
NC_000007.13:g.42018218C>A , CM000669.1:g.42018218C>A	GRCh37
NC_000007.12:g.41984743C>A	NCBI36
NG_008434.1:g.263401G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395925.8:c.1627G>T MANE Select	ENSP00000379258.3:p.Glu543Ter
ENST00000677288.1:c.1453G>T	ENSP00000503986.1:p.Glu485Ter
ENST00000677605.1:c.1627G>T	ENSP00000503743.1:p.Glu543Ter
ENST00000678429.1:c.1627G>T	ENSP00000502957.1:p.Glu543Ter
ENST00000395925.7:c.1627G>T	ENSP00000379258.3:p.Glu543Ter
ENST00000479210.1:n.1604G>T
NM_000168.5:c.1627G>T	NP_000159.3:p.Glu543Ter
XM_005249703.1:c.1627G>T	XP_005249760.1:p.Glu543Ter
XM_005249704.2:c.1627G>T	XP_005249761.1:p.Glu543Ter
XM_011515272.1:c.1627G>T	XP_011513574.1:p.Glu543Ter
XM_011515273.1:c.1627G>T	XP_011513575.1:p.Glu543Ter
XM_011515274.1:c.1450G>T	XP_011513576.1:p.Glu484Ter
XM_011515274.2:c.1450G>T	XP_011513576.1:p.Glu484Ter
XM_017011997.1:c.1624G>T	XP_016867486.1:p.Glu542Ter
NM_000168.6:c.1627G>T MANE Select	NP_000159.3:p.Glu543Ter