Canonical Allele Identifier: CA4230394
Gene: GLI3 HGNC NCBI

Linked Data

dbSNP Id: rs779300306
gnomAD v2: 7-42005336-A-G
gnomAD v4: 7-41965738-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.41965738A>G , CM000669.2:g.41965738A>G GRCh38
NC_000007.13:g.42005336A>G , CM000669.1:g.42005336A>G GRCh37
NC_000007.12:g.41971861A>G NCBI36
NG_008434.1:g.276283T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000395925.8:c.3335T>C MANE Select ENSP00000379258.3:p.Phe1112Ser
ENST00000677288.1:c.3161T>C ENSP00000503986.1:p.Phe1054Ser
ENST00000677605.1:c.3335T>C ENSP00000503743.1:p.Phe1112Ser
ENST00000678429.1:c.3335T>C ENSP00000502957.1:p.Phe1112Ser
ENST00000395925.7:c.3335T>C ENSP00000379258.3:p.Phe1112Ser
ENST00000479210.1:n.3312T>C
NM_000168.5:c.3335T>C NP_000159.3:p.Phe1112Ser
XM_005249703.1:c.3335T>C XP_005249760.1:p.Phe1112Ser
XM_005249704.2:c.3335T>C XP_005249761.1:p.Phe1112Ser
XM_011515272.1:c.3335T>C XP_011513574.1:p.Phe1112Ser
XM_011515273.1:c.3335T>C XP_011513575.1:p.Phe1112Ser
XM_011515274.1:c.3158T>C XP_011513576.1:p.Phe1053Ser
XM_011515274.2:c.3158T>C XP_011513576.1:p.Phe1053Ser
XM_017011997.1:c.3332T>C XP_016867486.1:p.Phe1111Ser
NM_000168.6:c.3335T>C MANE Select NP_000159.3:p.Phe1112Ser