Canonical Allele Identifier: CA4231028
Gene: GLI3 HGNC NCBI

Linked Data

dbSNP Id: rs780340226
gnomAD v2: 7-42079790-C-T
gnomAD v3: 7-42040191-C-T
gnomAD v4: 7-42040191-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.42040191C>T , CM000669.2:g.42040191C>T GRCh38
NC_000007.13:g.42079790C>T , CM000669.1:g.42079790C>T GRCh37
NC_000007.12:g.42046315C>T NCBI36
NG_008434.1:g.201829G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000395925.8:c.875G>A MANE Select ENSP00000379258.3:p.Arg292His
ENST00000677288.1:c.698G>A ENSP00000503986.1:p.Arg233His
ENST00000677605.1:c.875G>A ENSP00000503743.1:p.Arg292His
ENST00000678429.1:c.875G>A ENSP00000502957.1:p.Arg292His
ENST00000395925.7:c.875G>A ENSP00000379258.3:p.Arg292His
ENST00000479210.1:n.852G>A
NM_000168.5:c.875G>A NP_000159.3:p.Arg292His
XM_005249703.1:c.875G>A XP_005249760.1:p.Arg292His
XM_005249704.2:c.875G>A XP_005249761.1:p.Arg292His
XM_011515272.1:c.875G>A XP_011513574.1:p.Arg292His
XM_011515273.1:c.875G>A XP_011513575.1:p.Arg292His
XM_011515274.1:c.698G>A XP_011513576.1:p.Arg233His
XM_011515274.2:c.698G>A XP_011513576.1:p.Arg233His
XM_017011997.1:c.872G>A XP_016867486.1:p.Arg291His
NM_000168.6:c.875G>A MANE Select NP_000159.3:p.Arg292His