Canonical Allele Identifier: CA10629176

Gene: GLI3

Linked Data

• ClinVar Variation Id: 360157
• ClinVar RCV Id: RCV000306970 ; RCV000365037 ; RCV000404520
• dbSNP Id: rs553151369
• gnomAD v2: 7-42000619-G-T
• gnomAD v3: 7-41961021-G-T
• gnomAD v4: 7-41961021-G-T
• MyVariant Identifiers: chr7:g.42000619G>T (hg19) ; chr7:g.41961021G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.41961021G>T , CM000669.2:g.41961021G>T	GRCh38
NC_000007.13:g.42000619G>T , CM000669.1:g.42000619G>T	GRCh37
NC_000007.12:g.41967144G>T	NCBI36
NG_008434.1:g.281000C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395925.8:c.*3309C>A MANE Select	ENSP00000379258.3:n.*3309C>A
ENST00000677288.1:c.*3309C>A	ENSP00000503986.1:n.*3309C>A
ENST00000677605.1:c.*3309C>A	ENSP00000503743.1:n.*3309C>A
ENST00000678429.1:c.*3309C>A	ENSP00000502957.1:n.*3309C>A
ENST00000395925.7:c.*3309C>A	ENSP00000379258.3:n.*3309C>A
NM_000168.5:c.*3309C>A	NP_000159.3:n.*3309C>A
XM_005249703.1:c.*3309C>A	XP_005249760.1:n.*3309C>A
XM_005249704.2:c.*3309C>A	XP_005249761.1:n.*3309C>A
XM_011515272.1:c.*3309C>A	XP_011513574.1:n.*3309C>A
XM_011515273.1:c.*3309C>A	XP_011513575.1:n.*3309C>A
XM_011515274.1:c.*3309C>A	XP_011513576.1:n.*3309C>A
NM_000168.6:c.*3309C>A MANE Select	NP_000159.3:n.*3309C>A