Canonical Allele Identifier: CA4231275

Gene: GLI3

Linked Data

• ClinVar Variation Id: 286374
• ClinVar RCV Id: RCV000294796 ; RCV001366912 ; RCV002504000
• dbSNP Id: rs369237977
• ExAC: 7:42187969 G / C
• gnomAD v2: 7-42187969-G-C
• gnomAD v3: 7-42148370-G-C
• gnomAD v4: 7-42148370-G-C
• MyVariant Identifiers: chr7:g.42187969G>C (hg19) ; chr7:g.42148370G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.42148370G>C , CM000669.2:g.42148370G>C	GRCh38
NC_000007.13:g.42187969G>C , CM000669.1:g.42187969G>C	GRCh37
NC_000007.12:g.42154494G>C	NCBI36
NG_008434.1:g.93650C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395925.8:c.223C>G MANE Select	ENSP00000379258.3:p.Pro75Ala
ENST00000642432.1:c.46C>G	ENSP00000495498.1:p.Pro16Ala
ENST00000643264.1:c.46C>G	ENSP00000495207.1:p.Pro16Ala
ENST00000647255.1:c.46C>G	ENSP00000495745.1:p.Pro16Ala
ENST00000677288.1:c.46C>G	ENSP00000503986.1:p.Pro16Ala
ENST00000677605.1:c.223C>G	ENSP00000503743.1:p.Pro75Ala
ENST00000678429.1:c.223C>G	ENSP00000502957.1:p.Pro75Ala
ENST00000395925.7:c.223C>G	ENSP00000379258.3:p.Pro75Ala
ENST00000448703.5:c.223C>G	ENSP00000406135.1:p.Pro75Ala
ENST00000479210.1:n.200C>G
NM_000168.5:c.223C>G	NP_000159.3:p.Pro75Ala
XM_005249703.1:c.223C>G	XP_005249760.1:p.Pro75Ala
XM_005249704.2:c.223C>G	XP_005249761.1:p.Pro75Ala
XM_011515272.1:c.223C>G	XP_011513574.1:p.Pro75Ala
XM_011515273.1:c.223C>G	XP_011513575.1:p.Pro75Ala
XM_011515274.1:c.46C>G	XP_011513576.1:p.Pro16Ala
XM_011515274.2:c.46C>G	XP_011513576.1:p.Pro16Ala
XM_017011997.1:c.220C>G	XP_016867486.1:p.Pro74Ala
NM_000168.6:c.223C>G MANE Select	NP_000159.3:p.Pro75Ala