Canonical Allele Identifier: CA367321728

Gene: GLI3

Linked Data

• ClinVar Variation Id: 1710146
• ClinVar RCV Id: RCV002291083
• MyVariant Identifiers: chr7:g.42007488A>G (hg19) ; chr7:g.41967890A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.41967890A>G , CM000669.2:g.41967890A>G	GRCh38
NC_000007.13:g.42007488A>G , CM000669.1:g.42007488A>G	GRCh37
NC_000007.12:g.41974013A>G	NCBI36
NG_008434.1:g.274131T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000395925.8:c.2137T>C MANE Select	ENSP00000379258.3:p.Cys713Arg
ENST00000677288.1:c.1963T>C	ENSP00000503986.1:p.Cys655Arg
ENST00000677605.1:c.2137T>C	ENSP00000503743.1:p.Cys713Arg
ENST00000678429.1:c.2137T>C	ENSP00000502957.1:p.Cys713Arg
ENST00000395925.7:c.2137T>C	ENSP00000379258.3:p.Cys713Arg
ENST00000479210.1:n.2114T>C
NM_000168.5:c.2137T>C	NP_000159.3:p.Cys713Arg
XM_005249703.1:c.2137T>C	XP_005249760.1:p.Cys713Arg
XM_005249704.2:c.2137T>C	XP_005249761.1:p.Cys713Arg
XM_011515272.1:c.2137T>C	XP_011513574.1:p.Cys713Arg
XM_011515273.1:c.2137T>C	XP_011513575.1:p.Cys713Arg
XM_011515274.1:c.1960T>C	XP_011513576.1:p.Cys654Arg
XM_011515274.2:c.1960T>C	XP_011513576.1:p.Cys654Arg
XM_017011997.1:c.2134T>C	XP_016867486.1:p.Cys712Arg
NM_000168.6:c.2137T>C MANE Select	NP_000159.3:p.Cys713Arg