Canonical Allele Identifier: CA10629191

Gene: GLI3

Linked Data

• ClinVar Variation Id: 360174
• ClinVar RCV Id: RCV000295506 ; RCV000330544 ; RCV000389796
• dbSNP Id: rs886062316
• gnomAD v2: 7-42001671-T-A
• gnomAD v3: 7-41962073-T-A
• gnomAD v4: 7-41962073-T-A
• MyVariant Identifiers: chr7:g.42001671T>A (hg19) ; chr7:g.41962073T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.41962073T>A , CM000669.2:g.41962073T>A	GRCh38
NC_000007.13:g.42001671T>A , CM000669.1:g.42001671T>A	GRCh37
NC_000007.12:g.41968196T>A	NCBI36
NG_008434.1:g.279948A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000395925.8:c.*2257A>T MANE Select	ENSP00000379258.3:n.*2257A>T
ENST00000677288.1:c.*2257A>T	ENSP00000503986.1:n.*2257A>T
ENST00000677605.1:c.*2257A>T	ENSP00000503743.1:n.*2257A>T
ENST00000678429.1:c.*2257A>T	ENSP00000502957.1:n.*2257A>T
ENST00000395925.7:c.*2257A>T	ENSP00000379258.3:n.*2257A>T
NM_000168.5:c.*2257A>T	NP_000159.3:n.*2257A>T
XM_005249703.1:c.*2257A>T	XP_005249760.1:n.*2257A>T
XM_005249704.2:c.*2257A>T	XP_005249761.1:n.*2257A>T
XM_011515272.1:c.*2257A>T	XP_011513574.1:n.*2257A>T
XM_011515273.1:c.*2257A>T	XP_011513575.1:n.*2257A>T
XM_011515274.1:c.*2257A>T	XP_011513576.1:n.*2257A>T
NM_000168.6:c.*2257A>T MANE Select	NP_000159.3:n.*2257A>T