Canonical Allele Identifier: CA10629212

Gene: GLI3

Linked Data

• ClinVar Variation Id: 360264
• ClinVar RCV Id: RCV000293487 ; RCV000348425 ; RCV000374676 ; RCV001702360 ; RCV001712547 ; RCV002502388
• dbSNP Id: rs80019165
• gnomAD v2: 7-42262905-C-G
• gnomAD v3: 7-42223306-C-G
• gnomAD v4: 7-42223306-C-G
• MyVariant Identifiers: chr7:g.42262905C>G (hg19) ; chr7:g.42223306C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.42223306C>G , CM000669.2:g.42223306C>G	GRCh38
NC_000007.13:g.42262905C>G , CM000669.1:g.42262905C>G	GRCh37
NC_000007.12:g.42229430C>G	NCBI36
NG_008434.1:g.18714G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395925.8:c.-42-11G>C MANE Select	ENSP00000379258.3:n.-42-11G>C
ENST00000428534.2:c.-42-11G>C	ENSP00000503957.1:n.-42-11G>C
ENST00000677605.1:c.-42-11G>C	ENSP00000503743.1:n.-42-11G>C
ENST00000678429.1:c.-42-11G>C	ENSP00000502957.1:n.-42-11G>C
ENST00000678978.1:c.-42-11G>C	ENSP00000503352.1:n.-42-11G>C
ENST00000395925.7:c.-42-11G>C	ENSP00000379258.3:n.-42-11G>C
ENST00000428534.1:n.88-11G>C
ENST00000437480.1:c.-42-11G>C	ENSP00000407963.1:n.-42-11G>C
ENST00000448703.5:c.-42-11G>C	ENSP00000406135.1:n.-42-11G>C
NM_000168.5:c.-42-11G>C	NP_000159.3:n.-42-11G>C
XM_005249703.1:c.-42-11G>C	XP_005249760.1:n.-42-11G>C
XM_005249704.2:c.-42-11G>C	XP_005249761.1:n.-42-11G>C
XM_011515272.1:c.-42-11G>C	XP_011513574.1:n.-42-11G>C
XM_011515273.1:c.-42-11G>C	XP_011513575.1:n.-42-11G>C
NM_000168.6:c.-42-11G>C MANE Select	NP_000159.3:n.-42-11G>C