Canonical Allele Identifier: CA4230709

Gene: GLI3

Linked Data

• ClinVar Variation Id: 2161909
• ClinVar RCV Id: RCV004540542 ; RCV003078809
• dbSNP Id: rs143009880
• ExAC: 7:42012036 G / A
• gnomAD v2: 7-42012036-G-A
• gnomAD v3: 7-41972437-G-A
• gnomAD v4: 7-41972437-G-A
• MyVariant Identifiers: chr7:g.42012036G>A (hg19) ; chr7:g.41972437G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.41972437G>A , CM000669.2:g.41972437G>A	GRCh38
NC_000007.13:g.42012036G>A , CM000669.1:g.42012036G>A	GRCh37
NC_000007.12:g.41978561G>A	NCBI36
NG_008434.1:g.269583C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395925.8:c.2003C>T MANE Select	ENSP00000379258.3:p.Pro668Leu
ENST00000677288.1:c.1829C>T	ENSP00000503986.1:p.Pro610Leu
ENST00000677605.1:c.2003C>T	ENSP00000503743.1:p.Pro668Leu
ENST00000678429.1:c.2003C>T	ENSP00000502957.1:p.Pro668Leu
ENST00000395925.7:c.2003C>T	ENSP00000379258.3:p.Pro668Leu
ENST00000479210.1:n.1980C>T
NM_000168.5:c.2003C>T	NP_000159.3:p.Pro668Leu
XM_005249703.1:c.2003C>T	XP_005249760.1:p.Pro668Leu
XM_005249704.2:c.2003C>T	XP_005249761.1:p.Pro668Leu
XM_011515272.1:c.2003C>T	XP_011513574.1:p.Pro668Leu
XM_011515273.1:c.2003C>T	XP_011513575.1:p.Pro668Leu
XM_011515274.1:c.1826C>T	XP_011513576.1:p.Pro609Leu
XM_011515274.2:c.1826C>T	XP_011513576.1:p.Pro609Leu
XM_017011997.1:c.2000C>T	XP_016867486.1:p.Pro667Leu
NM_000168.6:c.2003C>T MANE Select	NP_000159.3:p.Pro668Leu