Canonical Allele Identifier: CA4230455

Gene: GLI3

Linked Data

• ClinVar Variation Id: 435333
• ClinVar RCV Id: RCV000500463 ; RCV003343870 ; RCV002524191
• dbSNP Id: rs376956433
• ExAC: 7:42005573 G / T
• gnomAD v2: 7-42005573-G-T
• gnomAD v3: 7-41965975-G-T
• gnomAD v4: 7-41965975-G-T
• MyVariant Identifiers: chr7:g.42005573G>T (hg19) ; chr7:g.41965975G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.41965975G>T , CM000669.2:g.41965975G>T	GRCh38
NC_000007.13:g.42005573G>T , CM000669.1:g.42005573G>T	GRCh37
NC_000007.12:g.41972098G>T	NCBI36
NG_008434.1:g.276046C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395925.8:c.3098C>A MANE Select	ENSP00000379258.3:p.Pro1033Gln
ENST00000677288.1:c.2924C>A	ENSP00000503986.1:p.Pro975Gln
ENST00000677605.1:c.3098C>A	ENSP00000503743.1:p.Pro1033Gln
ENST00000678429.1:c.3098C>A	ENSP00000502957.1:p.Pro1033Gln
ENST00000395925.7:c.3098C>A	ENSP00000379258.3:p.Pro1033Gln
ENST00000479210.1:n.3075C>A
NM_000168.5:c.3098C>A	NP_000159.3:p.Pro1033Gln
XM_005249703.1:c.3098C>A	XP_005249760.1:p.Pro1033Gln
XM_005249704.2:c.3098C>A	XP_005249761.1:p.Pro1033Gln
XM_011515272.1:c.3098C>A	XP_011513574.1:p.Pro1033Gln
XM_011515273.1:c.3098C>A	XP_011513575.1:p.Pro1033Gln
XM_011515274.1:c.2921C>A	XP_011513576.1:p.Pro974Gln
XM_011515274.2:c.2921C>A	XP_011513576.1:p.Pro974Gln
XM_017011997.1:c.3095C>A	XP_016867486.1:p.Pro1032Gln
NM_000168.6:c.3098C>A MANE Select	NP_000159.3:p.Pro1033Gln