Canonical Allele Identifier: CA367319047

Gene: GLI3

Linked Data

• ClinVar Variation Id: 1254627
• ClinVar RCV Id: RCV001658809 ; RCV002488446 ; RCV003771819
• dbSNP Id: rs2128705843
• gnomAD v4: 7-41965918-G-C
• MyVariant Identifiers: chr7:g.42005516G>C (hg19) ; chr7:g.41965918G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.41965918G>C , CM000669.2:g.41965918G>C	GRCh38
NC_000007.13:g.42005516G>C , CM000669.1:g.42005516G>C	GRCh37
NC_000007.12:g.41972041G>C	NCBI36
NG_008434.1:g.276103C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395925.8:c.3155C>G MANE Select	ENSP00000379258.3:p.Pro1052Arg
ENST00000677288.1:c.2981C>G	ENSP00000503986.1:p.Pro994Arg
ENST00000677605.1:c.3155C>G	ENSP00000503743.1:p.Pro1052Arg
ENST00000678429.1:c.3155C>G	ENSP00000502957.1:p.Pro1052Arg
ENST00000395925.7:c.3155C>G	ENSP00000379258.3:p.Pro1052Arg
ENST00000479210.1:n.3132C>G
NM_000168.5:c.3155C>G	NP_000159.3:p.Pro1052Arg
XM_005249703.1:c.3155C>G	XP_005249760.1:p.Pro1052Arg
XM_005249704.2:c.3155C>G	XP_005249761.1:p.Pro1052Arg
XM_011515272.1:c.3155C>G	XP_011513574.1:p.Pro1052Arg
XM_011515273.1:c.3155C>G	XP_011513575.1:p.Pro1052Arg
XM_011515274.1:c.2978C>G	XP_011513576.1:p.Pro993Arg
XM_011515274.2:c.2978C>G	XP_011513576.1:p.Pro993Arg
XM_017011997.1:c.3152C>G	XP_016867486.1:p.Pro1051Arg
NM_000168.6:c.3155C>G MANE Select	NP_000159.3:p.Pro1052Arg