Canonical Allele Identifier: CA4230455
Gene: GLI3 HGNC NCBI
COSMIC:
COSM5976381 (not active)
MyVariant.info:
GRCh38 chr7:g.41965975G>T
GRCh37 chr7:g.42005573G>T
Revel Score:
ENST00000395925 (MANE Select) 0.116
gnomAD v2:
7:42005573 G / T
gnomAD v3:
7:41965975 G / T
gnomAD v4:
chr7-41965975-G-T
Joint Max Group AF 0.00032191 (SAS)
Genomes Max Group AF 0.00016869 (SAS)
Exomes Max Group AF 0.00030995 (SAS)
ClinVar Allele:
428716
ClinVar RCV:
RCV000500463
RCV002524191
RCV003343870
ClinVar Variation:
435333
dbSNP:
376956433
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.41965975G>T , CM000669.2:g.41965975G>T GRCh38
NC_000007.13:g.42005573G>T , CM000669.1:g.42005573G>T GRCh37
NC_000007.12:g.41972098G>T NCBI36
NG_008434.1:g.276046C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000395925.8:c.3098C>A MANE Select ENSP00000379258.3:p.Pro1033Gln
ENST00000677288.1:c.2924C>A ENSP00000503986.1:p.Pro975Gln
ENST00000677605.1:c.3098C>A ENSP00000503743.1:p.Pro1033Gln
ENST00000678429.1:c.3098C>A ENSP00000502957.1:p.Pro1033Gln
ENST00000395925.7:c.3098C>A ENSP00000379258.3:p.Pro1033Gln
ENST00000479210.1:n.3075C>A
NM_000168.5:c.3098C>A NP_000159.3:p.Pro1033Gln
XM_005249703.1:c.3098C>A XP_005249760.1:p.Pro1033Gln
XM_005249704.2:c.3098C>A XP_005249761.1:p.Pro1033Gln
XM_011515272.1:c.3098C>A XP_011513574.1:p.Pro1033Gln
XM_011515273.1:c.3098C>A XP_011513575.1:p.Pro1033Gln
XM_011515274.1:c.2921C>A XP_011513576.1:p.Pro974Gln
XM_011515274.2:c.2921C>A XP_011513576.1:p.Pro974Gln
XM_017011997.1:c.3095C>A XP_016867486.1:p.Pro1032Gln
NM_000168.6:c.3098C>A MANE Select NP_000159.3:p.Pro1033Gln
Search 100 bp 5'
Search 100 bp 3'