Canonical Allele Identifier: CA4231132

Gene: GLI3

Linked Data

• ClinVar Variation Id: 2189684
• ClinVar RCV Id: RCV002611742
• dbSNP Id: rs749940791
• ExAC: 7:42088155 C / T
• gnomAD v2: 7-42088155-C-T
• gnomAD v4: 7-42048556-C-T
• MyVariant Identifiers: chr7:g.42088155C>T (hg19) ; chr7:g.42048556C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.42048556C>T , CM000669.2:g.42048556C>T	GRCh38
NC_000007.13:g.42088155C>T , CM000669.1:g.42088155C>T	GRCh37
NC_000007.12:g.42054680C>T	NCBI36
NG_008434.1:g.193464G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395925.8:c.614G>A MANE Select	ENSP00000379258.3:p.Arg205His
ENST00000677288.1:c.437G>A	ENSP00000503986.1:p.Arg146His
ENST00000677605.1:c.614G>A	ENSP00000503743.1:p.Arg205His
ENST00000678429.1:c.614G>A	ENSP00000502957.1:p.Arg205His
ENST00000395925.7:c.614G>A	ENSP00000379258.3:p.Arg205His
ENST00000479210.1:n.591G>A
NM_000168.5:c.614G>A	NP_000159.3:p.Arg205His
XM_005249703.1:c.614G>A	XP_005249760.1:p.Arg205His
XM_005249704.2:c.614G>A	XP_005249761.1:p.Arg205His
XM_011515272.1:c.614G>A	XP_011513574.1:p.Arg205His
XM_011515273.1:c.614G>A	XP_011513575.1:p.Arg205His
XM_011515274.1:c.437G>A	XP_011513576.1:p.Arg146His
XM_011515274.2:c.437G>A	XP_011513576.1:p.Arg146His
XM_017011997.1:c.611G>A	XP_016867486.1:p.Arg204His
NM_000168.6:c.614G>A MANE Select	NP_000159.3:p.Arg205His