Canonical Allele Identifier: CA4230440

Gene: GLI3

Linked Data

• dbSNP Id: rs778463017
• ExAC: 7:42005546 C / A
• gnomAD v2: 7-42005546-C-A
• gnomAD v4: 7-41965948-C-A
• MyVariant Identifiers: chr7:g.42005546C>A (hg19) ; chr7:g.41965948C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.41965948C>A , CM000669.2:g.41965948C>A	GRCh38
NC_000007.13:g.42005546C>A , CM000669.1:g.42005546C>A	GRCh37
NC_000007.12:g.41972071C>A	NCBI36
NG_008434.1:g.276073G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395925.8:c.3125G>T MANE Select	ENSP00000379258.3:p.Arg1042Leu
ENST00000677288.1:c.2951G>T	ENSP00000503986.1:p.Arg984Leu
ENST00000677605.1:c.3125G>T	ENSP00000503743.1:p.Arg1042Leu
ENST00000678429.1:c.3125G>T	ENSP00000502957.1:p.Arg1042Leu
ENST00000395925.7:c.3125G>T	ENSP00000379258.3:p.Arg1042Leu
ENST00000479210.1:n.3102G>T
NM_000168.5:c.3125G>T	NP_000159.3:p.Arg1042Leu
XM_005249703.1:c.3125G>T	XP_005249760.1:p.Arg1042Leu
XM_005249704.2:c.3125G>T	XP_005249761.1:p.Arg1042Leu
XM_011515272.1:c.3125G>T	XP_011513574.1:p.Arg1042Leu
XM_011515273.1:c.3125G>T	XP_011513575.1:p.Arg1042Leu
XM_011515274.1:c.2948G>T	XP_011513576.1:p.Arg983Leu
XM_011515274.2:c.2948G>T	XP_011513576.1:p.Arg983Leu
XM_017011997.1:c.3122G>T	XP_016867486.1:p.Arg1041Leu
NM_000168.6:c.3125G>T MANE Select	NP_000159.3:p.Arg1042Leu