Canonical Allele Identifier: CA4230877

Gene: GLI3

Linked Data

• ClinVar Variation Id: 255420
• ClinVar RCV Id: RCV000241837 ; RCV000274891 ; RCV000308865 ; RCV000367167 ; RCV001668414 ; RCV001701884 ; RCV001701804 ; RCV002057321
• dbSNP Id: rs846273
• ExAC: 7:42064852 C / G
• gnomAD v2: 7-42064852-C-G
• gnomAD v3: 7-42025253-C-G
• gnomAD v4: 7-42025253-C-G
• MyVariant Identifiers: chr7:g.42064852C>G (hg19) ; chr7:g.42025253C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.42025253C>G , CM000669.2:g.42025253C>G	GRCh38
NC_000007.13:g.42064852C>G , CM000669.1:g.42064852C>G	GRCh37
NC_000007.12:g.42031377C>G	NCBI36
NG_008434.1:g.216767G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395925.8:c.1356+11G>C MANE Select	ENSP00000379258.3:n.1356+11G>C
ENST00000677288.1:c.1182+11G>C	ENSP00000503986.1:n.1182+11G>C
ENST00000677605.1:c.1356+11G>C	ENSP00000503743.1:n.1356+11G>C
ENST00000678429.1:c.1356+11G>C	ENSP00000502957.1:n.1356+11G>C
ENST00000395925.7:c.1356+11G>C	ENSP00000379258.3:n.1356+11G>C
ENST00000479210.1:n.1333+11G>C
NM_000168.5:c.1356+11G>C	NP_000159.3:n.1356+11G>C
XM_005249703.1:c.1356+11G>C	XP_005249760.1:n.1356+11G>C
XM_005249704.2:c.1356+11G>C	XP_005249761.1:n.1356+11G>C
XM_011515272.1:c.1356+11G>C	XP_011513574.1:n.1356+11G>C
XM_011515273.1:c.1356+11G>C	XP_011513575.1:n.1356+11G>C
XM_011515274.1:c.1179+11G>C	XP_011513576.1:n.1179+11G>C
XM_011515274.2:c.1179+11G>C	XP_011513576.1:n.1179+11G>C
XM_017011997.1:c.1353+11G>C	XP_016867486.1:n.1353+11G>C
NM_000168.6:c.1356+11G>C MANE Select	NP_000159.3:n.1356+11G>C