Canonical Allele Identifier: CA4230694

Gene: GLI3

Linked Data

• ClinVar Variation Id: 360239
• ClinVar RCV Id: RCV000263729 ; RCV000316559 ; RCV000373507 ; RCV002058670 ; RCV004544692
• dbSNP Id: rs199606102
• ExAC: 7:42011956 C / T
• gnomAD v2: 7-42011956-C-T
• gnomAD v3: 7-41972357-C-T
• gnomAD v4: 7-41972357-C-T
• COSMIC: COSM3881018
• MyVariant Identifiers: chr7:g.42011956C>T (hg19) ; chr7:g.41972357C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.41972357C>T , CM000669.2:g.41972357C>T	GRCh38
NC_000007.13:g.42011956C>T , CM000669.1:g.42011956C>T	GRCh37
NC_000007.12:g.41978481C>T	NCBI36
NG_008434.1:g.269663G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395925.8:c.2083G>A MANE Select	ENSP00000379258.3:p.Val695Ile
ENST00000677288.1:c.1909G>A	ENSP00000503986.1:p.Val637Ile
ENST00000677605.1:c.2083G>A	ENSP00000503743.1:p.Val695Ile
ENST00000678429.1:c.2083G>A	ENSP00000502957.1:p.Val695Ile
ENST00000395925.7:c.2083G>A	ENSP00000379258.3:p.Val695Ile
ENST00000479210.1:n.2060G>A
NM_000168.5:c.2083G>A	NP_000159.3:p.Val695Ile
XM_005249703.1:c.2083G>A	XP_005249760.1:p.Val695Ile
XM_005249704.2:c.2083G>A	XP_005249761.1:p.Val695Ile
XM_011515272.1:c.2083G>A	XP_011513574.1:p.Val695Ile
XM_011515273.1:c.2083G>A	XP_011513575.1:p.Val695Ile
XM_011515274.1:c.1906G>A	XP_011513576.1:p.Val636Ile
XM_011515274.2:c.1906G>A	XP_011513576.1:p.Val636Ile
XM_017011997.1:c.2080G>A	XP_016867486.1:p.Val694Ile
NM_000168.6:c.2083G>A MANE Select	NP_000159.3:p.Val695Ile