Canonical Allele Identifier: CA123498
Gene: GLI3 HGNC NCBI

Linked Data

ClinVar Variation Id: 13826
dbSNP Id: rs121917713
gnomAD v4: 7-42040198-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.42040198G>A , CM000669.2:g.42040198G>A GRCh38
NC_000007.13:g.42079797G>A , CM000669.1:g.42079797G>A GRCh37
NC_000007.12:g.42046322G>A NCBI36
NG_008434.1:g.201822C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000395925.8:c.868C>T MANE Select ENSP00000379258.3:p.Arg290Ter
ENST00000677288.1:c.691C>T ENSP00000503986.1:p.Arg231Ter
ENST00000677605.1:c.868C>T ENSP00000503743.1:p.Arg290Ter
ENST00000678429.1:c.868C>T ENSP00000502957.1:p.Arg290Ter
ENST00000395925.7:c.868C>T ENSP00000379258.3:p.Arg290Ter
ENST00000479210.1:n.845C>T
NM_000168.5:c.868C>T NP_000159.3:p.Arg290Ter
XM_005249703.1:c.868C>T XP_005249760.1:p.Arg290Ter
XM_005249704.2:c.868C>T XP_005249761.1:p.Arg290Ter
XM_011515272.1:c.868C>T XP_011513574.1:p.Arg290Ter
XM_011515273.1:c.868C>T XP_011513575.1:p.Arg290Ter
XM_011515274.1:c.691C>T XP_011513576.1:p.Arg231Ter
XM_011515274.2:c.691C>T XP_011513576.1:p.Arg231Ter
XM_017011997.1:c.865C>T XP_016867486.1:p.Arg289Ter
NM_000168.6:c.868C>T MANE Select NP_000159.3:p.Arg290Ter