Canonical Allele Identifier: CA4230736

Gene: GLI3

Linked Data

• ClinVar Variation Id: 2922495
• ClinVar RCV Id: RCV003785709 ; RCV004542251
• dbSNP Id: rs564676310
• ExAC: 7:42012137 T / A
• gnomAD v2: 7-42012137-T-A
• gnomAD v3: 7-41972538-T-A
• gnomAD v4: 7-41972538-T-A
• MyVariant Identifiers: chr7:g.42012137T>A (hg19) ; chr7:g.41972538T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.41972538T>A , CM000669.2:g.41972538T>A	GRCh38
NC_000007.13:g.42012137T>A , CM000669.1:g.42012137T>A	GRCh37
NC_000007.12:g.41978662T>A	NCBI36
NG_008434.1:g.269482A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395925.8:c.1902A>T MANE Select	ENSP00000379258.3:p.Pro634=
ENST00000677288.1:c.1728A>T	ENSP00000503986.1:p.Pro576=
ENST00000677605.1:c.1902A>T	ENSP00000503743.1:p.Pro634=
ENST00000678429.1:c.1902A>T	ENSP00000502957.1:p.Pro634=
ENST00000395925.7:c.1902A>T	ENSP00000379258.3:p.Pro634=
ENST00000464291.1:n.455A>T
ENST00000479210.1:n.1879A>T
NM_000168.5:c.1902A>T	NP_000159.3:p.Pro634=
XM_005249703.1:c.1902A>T	XP_005249760.1:p.Pro634=
XM_005249704.2:c.1902A>T	XP_005249761.1:p.Pro634=
XM_011515272.1:c.1902A>T	XP_011513574.1:p.Pro634=
XM_011515273.1:c.1902A>T	XP_011513575.1:p.Pro634=
XM_011515274.1:c.1725A>T	XP_011513576.1:p.Pro575=
XM_011515274.2:c.1725A>T	XP_011513576.1:p.Pro575=
XM_017011997.1:c.1899A>T	XP_016867486.1:p.Pro633=
NM_000168.6:c.1902A>T MANE Select	NP_000159.3:p.Pro634=