Canonical Allele Identifier: CA10626083

Gene: GLI3

Linked Data

• ClinVar Variation Id: 360184
• ClinVar RCV Id: RCV000310905 ; RCV000352272 ; RCV000391539
• dbSNP Id: rs183853326
• gnomAD v2: 7-42002305-T-C
• gnomAD v3: 7-41962707-T-C
• gnomAD v4: 7-41962707-T-C
• MyVariant Identifiers: chr7:g.42002305T>C (hg19) ; chr7:g.41962707T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.41962707T>C , CM000669.2:g.41962707T>C	GRCh38
NC_000007.13:g.42002305T>C , CM000669.1:g.42002305T>C	GRCh37
NC_000007.12:g.41968830T>C	NCBI36
NG_008434.1:g.279314A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395925.8:c.*1623A>G MANE Select	ENSP00000379258.3:n.*1623A>G
ENST00000677288.1:c.*1623A>G	ENSP00000503986.1:n.*1623A>G
ENST00000677605.1:c.*1623A>G	ENSP00000503743.1:n.*1623A>G
ENST00000678429.1:c.*1623A>G	ENSP00000502957.1:n.*1623A>G
ENST00000395925.7:c.*1623A>G	ENSP00000379258.3:n.*1623A>G
NM_000168.5:c.*1623A>G	NP_000159.3:n.*1623A>G
XM_005249703.1:c.*1623A>G	XP_005249760.1:n.*1623A>G
XM_005249704.2:c.*1623A>G	XP_005249761.1:n.*1623A>G
XM_011515272.1:c.*1623A>G	XP_011513574.1:n.*1623A>G
XM_011515273.1:c.*1623A>G	XP_011513575.1:n.*1623A>G
XM_011515274.1:c.*1623A>G	XP_011513576.1:n.*1623A>G
NM_000168.6:c.*1623A>G MANE Select	NP_000159.3:n.*1623A>G