Canonical Allele Identifier: CA4230435

Gene: GLI3

Linked Data

• ClinVar Variation Id: 360231
• ClinVar RCV Id: RCV000278006 ; RCV000332936 ; RCV000354031 ; RCV002524531
• dbSNP Id: rs146556791
• ExAC: 7:42005522 G / A
• gnomAD v2: 7-42005522-G-A
• gnomAD v3: 7-41965924-G-A
• gnomAD v4: 7-41965924-G-A
• COSMIC: COSM3414014
• MyVariant Identifiers: chr7:g.42005522G>A (hg19) ; chr7:g.41965924G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.41965924G>A , CM000669.2:g.41965924G>A	GRCh38
NC_000007.13:g.42005522G>A , CM000669.1:g.42005522G>A	GRCh37
NC_000007.12:g.41972047G>A	NCBI36
NG_008434.1:g.276097C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395925.8:c.3149C>T MANE Select	ENSP00000379258.3:p.Thr1050Met
ENST00000677288.1:c.2975C>T	ENSP00000503986.1:p.Thr992Met
ENST00000677605.1:c.3149C>T	ENSP00000503743.1:p.Thr1050Met
ENST00000678429.1:c.3149C>T	ENSP00000502957.1:p.Thr1050Met
ENST00000395925.7:c.3149C>T	ENSP00000379258.3:p.Thr1050Met
ENST00000479210.1:n.3126C>T
NM_000168.5:c.3149C>T	NP_000159.3:p.Thr1050Met
XM_005249703.1:c.3149C>T	XP_005249760.1:p.Thr1050Met
XM_005249704.2:c.3149C>T	XP_005249761.1:p.Thr1050Met
XM_011515272.1:c.3149C>T	XP_011513574.1:p.Thr1050Met
XM_011515273.1:c.3149C>T	XP_011513575.1:p.Thr1050Met
XM_011515274.1:c.2972C>T	XP_011513576.1:p.Thr991Met
XM_011515274.2:c.2972C>T	XP_011513576.1:p.Thr991Met
XM_017011997.1:c.3146C>T	XP_016867486.1:p.Thr1049Met
NM_000168.6:c.3149C>T MANE Select	NP_000159.3:p.Thr1050Met