Canonical Allele Identifier: CA4230442
Gene: GLI3 HGNC NCBI

Linked Data

ClinVar Variation Id: 287984
dbSNP Id: rs376477553
gnomAD v2: 7-42005552-T-A
gnomAD v3: 7-41965954-T-A
gnomAD v4: 7-41965954-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.41965954T>A , CM000669.2:g.41965954T>A GRCh38
NC_000007.13:g.42005552T>A , CM000669.1:g.42005552T>A GRCh37
NC_000007.12:g.41972077T>A NCBI36
NG_008434.1:g.276067A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000395925.8:c.3119A>T MANE Select ENSP00000379258.3:p.Glu1040Val
ENST00000677288.1:c.2945A>T ENSP00000503986.1:p.Glu982Val
ENST00000677605.1:c.3119A>T ENSP00000503743.1:p.Glu1040Val
ENST00000678429.1:c.3119A>T ENSP00000502957.1:p.Glu1040Val
ENST00000395925.7:c.3119A>T ENSP00000379258.3:p.Glu1040Val
ENST00000479210.1:n.3096A>T
NM_000168.5:c.3119A>T NP_000159.3:p.Glu1040Val
XM_005249703.1:c.3119A>T XP_005249760.1:p.Glu1040Val
XM_005249704.2:c.3119A>T XP_005249761.1:p.Glu1040Val
XM_011515272.1:c.3119A>T XP_011513574.1:p.Glu1040Val
XM_011515273.1:c.3119A>T XP_011513575.1:p.Glu1040Val
XM_011515274.1:c.2942A>T XP_011513576.1:p.Glu981Val
XM_011515274.2:c.2942A>T XP_011513576.1:p.Glu981Val
XM_017011997.1:c.3116A>T XP_016867486.1:p.Glu1039Val
NM_000168.6:c.3119A>T MANE Select NP_000159.3:p.Glu1040Val