Canonical Allele Identifier: CA10629189

Gene: GLI3

Linked Data

• ClinVar Variation Id: 360166
• ClinVar RCV Id: RCV000265507 ; RCV000320672 ; RCV000379806
• dbSNP Id: rs56158069
• gnomAD v2: 7-42001308-G-C
• gnomAD v3: 7-41961710-G-C
• gnomAD v4: 7-41961710-G-C
• MyVariant Identifiers: chr7:g.42001308G>C (hg19) ; chr7:g.41961710G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.41961710G>C , CM000669.2:g.41961710G>C	GRCh38
NC_000007.13:g.42001308G>C , CM000669.1:g.42001308G>C	GRCh37
NC_000007.12:g.41967833G>C	NCBI36
NG_008434.1:g.280311C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395925.8:c.*2620C>G MANE Select	ENSP00000379258.3:n.*2620C>G
ENST00000677288.1:c.*2620C>G	ENSP00000503986.1:n.*2620C>G
ENST00000677605.1:c.*2620C>G	ENSP00000503743.1:n.*2620C>G
ENST00000678429.1:c.*2620C>G	ENSP00000502957.1:n.*2620C>G
ENST00000395925.7:c.*2620C>G	ENSP00000379258.3:n.*2620C>G
NM_000168.5:c.*2620C>G	NP_000159.3:n.*2620C>G
XM_005249703.1:c.*2620C>G	XP_005249760.1:n.*2620C>G
XM_005249704.2:c.*2620C>G	XP_005249761.1:n.*2620C>G
XM_011515272.1:c.*2620C>G	XP_011513574.1:n.*2620C>G
XM_011515273.1:c.*2620C>G	XP_011513575.1:n.*2620C>G
XM_011515274.1:c.*2620C>G	XP_011513576.1:n.*2620C>G
NM_000168.6:c.*2620C>G MANE Select	NP_000159.3:n.*2620C>G