Canonical Allele Identifier: CA4231136
Gene: GLI3 HGNC NCBI

Linked Data

ClinVar Variation Id: 3035638
ClinVar RCV Id: RCV004537054
dbSNP Id: rs766434502
gnomAD v2: 7-42088168-T-C
gnomAD v4: 7-42048569-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.42048569T>C , CM000669.2:g.42048569T>C GRCh38
NC_000007.13:g.42088168T>C , CM000669.1:g.42088168T>C GRCh37
NC_000007.12:g.42054693T>C NCBI36
NG_008434.1:g.193451A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000395925.8:c.601A>G MANE Select ENSP00000379258.3:p.Met201Val
ENST00000677288.1:c.424A>G ENSP00000503986.1:p.Met142Val
ENST00000677605.1:c.601A>G ENSP00000503743.1:p.Met201Val
ENST00000678429.1:c.601A>G ENSP00000502957.1:p.Met201Val
ENST00000395925.7:c.601A>G ENSP00000379258.3:p.Met201Val
ENST00000479210.1:n.578A>G
NM_000168.5:c.601A>G NP_000159.3:p.Met201Val
XM_005249703.1:c.601A>G XP_005249760.1:p.Met201Val
XM_005249704.2:c.601A>G XP_005249761.1:p.Met201Val
XM_011515272.1:c.601A>G XP_011513574.1:p.Met201Val
XM_011515273.1:c.601A>G XP_011513575.1:p.Met201Val
XM_011515274.1:c.424A>G XP_011513576.1:p.Met142Val
XM_011515274.2:c.424A>G XP_011513576.1:p.Met142Val
XM_017011997.1:c.598A>G XP_016867486.1:p.Met200Val
NM_000168.6:c.601A>G MANE Select NP_000159.3:p.Met201Val