Canonical Allele Identifier: CA156913658

Gene: GLI3

Linked Data

• ClinVar Variation Id: 931841
• ClinVar RCV Id: RCV001198781 ; RCV003770220
• dbSNP Id: rs979364849
• gnomAD v3: 7-41972392-G-A
• gnomAD v4: 7-41972392-G-A
• MyVariant Identifiers: chr7:g.42011991G>A (hg19) ; chr7:g.41972392G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.41972392G>A , CM000669.2:g.41972392G>A	GRCh38
NC_000007.13:g.42011991G>A , CM000669.1:g.42011991G>A	GRCh37
NC_000007.12:g.41978516G>A	NCBI36
NG_008434.1:g.269628C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395925.8:c.2048C>T MANE Select	ENSP00000379258.3:p.Thr683Ile
ENST00000677288.1:c.1874C>T	ENSP00000503986.1:p.Thr625Ile
ENST00000677605.1:c.2048C>T	ENSP00000503743.1:p.Thr683Ile
ENST00000678429.1:c.2048C>T	ENSP00000502957.1:p.Thr683Ile
ENST00000395925.7:c.2048C>T	ENSP00000379258.3:p.Thr683Ile
ENST00000479210.1:n.2025C>T
NM_000168.5:c.2048C>T	NP_000159.3:p.Thr683Ile
XM_005249703.1:c.2048C>T	XP_005249760.1:p.Thr683Ile
XM_005249704.2:c.2048C>T	XP_005249761.1:p.Thr683Ile
XM_011515272.1:c.2048C>T	XP_011513574.1:p.Thr683Ile
XM_011515273.1:c.2048C>T	XP_011513575.1:p.Thr683Ile
XM_011515274.1:c.1871C>T	XP_011513576.1:p.Thr624Ile
XM_011515274.2:c.1871C>T	XP_011513576.1:p.Thr624Ile
XM_017011997.1:c.2045C>T	XP_016867486.1:p.Thr682Ile
NM_000168.6:c.2048C>T MANE Select	NP_000159.3:p.Thr683Ile