Canonical Allele Identifier: CA1702660081

Gene: GLI3

Linked Data

• dbSNP Id: rs1787087557
• gnomAD v4: 7-41964087-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.41964087G>C , CM000669.2:g.41964087G>C	GRCh38
NC_000007.13:g.42003685G>C , CM000669.1:g.42003685G>C	GRCh37
NC_000007.12:g.41970210G>C	NCBI36
NG_008434.1:g.277934C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395925.8:c.*243C>G MANE Select	ENSP00000379258.3:n.*243C>G
ENST00000677288.1:c.*243C>G	ENSP00000503986.1:n.*243C>G
ENST00000677605.1:c.*243C>G	ENSP00000503743.1:n.*243C>G
ENST00000678429.1:c.*243C>G	ENSP00000502957.1:n.*243C>G
ENST00000395925.7:c.*243C>G	ENSP00000379258.3:n.*243C>G
ENST00000479210.1:n.4963C>G
NM_000168.5:c.*243C>G	NP_000159.3:n.*243C>G
XM_005249703.1:c.*243C>G	XP_005249760.1:n.*243C>G
XM_005249704.2:c.*243C>G	XP_005249761.1:n.*243C>G
XM_011515272.1:c.*243C>G	XP_011513574.1:n.*243C>G
XM_011515273.1:c.*243C>G	XP_011513575.1:n.*243C>G
XM_011515274.1:c.*243C>G	XP_011513576.1:n.*243C>G
NM_000168.6:c.*243C>G MANE Select	NP_000159.3:n.*243C>G