Canonical Allele Identifier: CA4230492
Gene: GLI3 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.41966113T>C
GRCh37 chr7:g.42005711T>C
Revel Score:
ENST00000395925 (MANE Select) 0.182
gnomAD v2:
7:42005711 T / C
gnomAD v3:
7:41966113 T / C
gnomAD v4:
chr7-41966113-T-C
Joint Max Group AF 0.00004477 (NFE)
Genomes Max Group AF 0.00001973 (NFE)
Exomes Max Group AF 0.00004402 (NFE)
ClinVar Allele:
311114
ClinVar RCV:
RCV000271369
RCV000326387
RCV000362411
ClinVar Variation:
360234
dbSNP:
777313061
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.41966113T>C , CM000669.2:g.41966113T>C GRCh38
NC_000007.13:g.42005711T>C , CM000669.1:g.42005711T>C GRCh37
NC_000007.12:g.41972236T>C NCBI36
NG_008434.1:g.275908A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000395925.8:c.2960A>G MANE Select ENSP00000379258.3:p.Tyr987Cys
ENST00000677288.1:c.2786A>G ENSP00000503986.1:p.Tyr929Cys
ENST00000677605.1:c.2960A>G ENSP00000503743.1:p.Tyr987Cys
ENST00000678429.1:c.2960A>G ENSP00000502957.1:p.Tyr987Cys
ENST00000395925.7:c.2960A>G ENSP00000379258.3:p.Tyr987Cys
ENST00000479210.1:n.2937A>G
NM_000168.5:c.2960A>G NP_000159.3:p.Tyr987Cys
XM_005249703.1:c.2960A>G XP_005249760.1:p.Tyr987Cys
XM_005249704.2:c.2960A>G XP_005249761.1:p.Tyr987Cys
XM_011515272.1:c.2960A>G XP_011513574.1:p.Tyr987Cys
XM_011515273.1:c.2960A>G XP_011513575.1:p.Tyr987Cys
XM_011515274.1:c.2783A>G XP_011513576.1:p.Tyr928Cys
XM_011515274.2:c.2783A>G XP_011513576.1:p.Tyr928Cys
XM_017011997.1:c.2957A>G XP_016867486.1:p.Tyr986Cys
NM_000168.6:c.2960A>G MANE Select NP_000159.3:p.Tyr987Cys
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