Canonical Allele Identifier: CA4230720
Gene: GLI3 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.41972471C>T
GRCh37 chr7:g.42012070C>T
Revel Score:
ENST00000395925 (MANE Select) 0.083
gnomAD v2:
7:42012070 C / T
gnomAD v3:
7:41972471 C / T
gnomAD v4:
chr7-41972471-C-T
Joint Max Group AF 0.00004182 (NFE)
Genomes Max Group AF 0.00001924 (AFR)
Exomes Max Group AF 0.00004178 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.41972471C>T , CM000669.2:g.41972471C>T GRCh38
NC_000007.13:g.42012070C>T , CM000669.1:g.42012070C>T GRCh37
NC_000007.12:g.41978595C>T NCBI36
NG_008434.1:g.269549G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000395925.8:c.1969G>A MANE Select ENSP00000379258.3:p.Gly657Ser
ENST00000677288.1:c.1795G>A ENSP00000503986.1:p.Gly599Ser
ENST00000677605.1:c.1969G>A ENSP00000503743.1:p.Gly657Ser
ENST00000678429.1:c.1969G>A ENSP00000502957.1:p.Gly657Ser
ENST00000395925.7:c.1969G>A ENSP00000379258.3:p.Gly657Ser
ENST00000464291.1:n.522G>A
ENST00000479210.1:n.1946G>A
NM_000168.5:c.1969G>A NP_000159.3:p.Gly657Ser
XM_005249703.1:c.1969G>A XP_005249760.1:p.Gly657Ser
XM_005249704.2:c.1969G>A XP_005249761.1:p.Gly657Ser
XM_011515272.1:c.1969G>A XP_011513574.1:p.Gly657Ser
XM_011515273.1:c.1969G>A XP_011513575.1:p.Gly657Ser
XM_011515274.1:c.1792G>A XP_011513576.1:p.Gly598Ser
XM_011515274.2:c.1792G>A XP_011513576.1:p.Gly598Ser
XM_017011997.1:c.1966G>A XP_016867486.1:p.Gly656Ser
NM_000168.6:c.1969G>A MANE Select NP_000159.3:p.Gly657Ser
Search 100 bp 5'
Search 100 bp 3'