Canonical Allele Identifier: CA4230840
Gene: GLI3 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.42023503C>T
GRCh37 chr7:g.42063102C>T
Revel Score:
ENST00000395925 (MANE Select) 0.199
gnomAD v2:
7:42063102 C / T
gnomAD v3:
7:42023503 C / T
gnomAD v4:
chr7-42023503-C-T
Joint Max Group AF 0.00042899 (MID)
Genomes Max Group AF 0.00001972 (NFE)
Exomes Max Group AF 0.00045303 (MID)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.42023503C>T , CM000669.2:g.42023503C>T GRCh38
NC_000007.13:g.42063102C>T , CM000669.1:g.42063102C>T GRCh37
NC_000007.12:g.42029627C>T NCBI36
NG_008434.1:g.218517G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000395925.8:c.1462G>A MANE Select ENSP00000379258.3:p.Ala488Thr
ENST00000677288.1:c.1288G>A ENSP00000503986.1:p.Ala430Thr
ENST00000677605.1:c.1462G>A ENSP00000503743.1:p.Ala488Thr
ENST00000678429.1:c.1462G>A ENSP00000502957.1:p.Ala488Thr
ENST00000395925.7:c.1462G>A ENSP00000379258.3:p.Ala488Thr
ENST00000479210.1:n.1439G>A
NM_000168.5:c.1462G>A NP_000159.3:p.Ala488Thr
XM_005249703.1:c.1462G>A XP_005249760.1:p.Ala488Thr
XM_005249704.2:c.1462G>A XP_005249761.1:p.Ala488Thr
XM_011515272.1:c.1462G>A XP_011513574.1:p.Ala488Thr
XM_011515273.1:c.1462G>A XP_011513575.1:p.Ala488Thr
XM_011515274.1:c.1285G>A XP_011513576.1:p.Ala429Thr
XM_011515274.2:c.1285G>A XP_011513576.1:p.Ala429Thr
XM_017011997.1:c.1459G>A XP_016867486.1:p.Ala487Thr
NM_000168.6:c.1462G>A MANE Select NP_000159.3:p.Ala488Thr
Search 100 bp 5'
Search 100 bp 3'