Canonical Allele Identifier: CA454537665

Gene: GLI3

Linked Data

• gnomAD v4: 7-42048663-C-G
• MyVariant Identifiers: chr7:g.42088262C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.42048663C>G , CM000669.2:g.42048663C>G	GRCh38
NC_000007.13:g.42088262C>G , CM000669.1:g.42088262C>G	GRCh37
NC_000007.12:g.42054787C>G	NCBI36
NG_008434.1:g.193357G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395925.8:c.507G>C MANE Select	ENSP00000379258.3:p.Pro169=
ENST00000677288.1:c.330G>C	ENSP00000503986.1:p.Pro110=
ENST00000677605.1:c.507G>C	ENSP00000503743.1:p.Pro169=
ENST00000678429.1:c.507G>C	ENSP00000502957.1:p.Pro169=
ENST00000395925.7:c.507G>C	ENSP00000379258.3:p.Pro169=
ENST00000448703.5:c.507G>C	ENSP00000406135.1:p.Pro169=
ENST00000479210.1:n.484G>C
NM_000168.5:c.507G>C	NP_000159.3:p.Pro169=
XM_005249703.1:c.507G>C	XP_005249760.1:p.Pro169=
XM_005249704.2:c.507G>C	XP_005249761.1:p.Pro169=
XM_011515272.1:c.507G>C	XP_011513574.1:p.Pro169=
XM_011515273.1:c.507G>C	XP_011513575.1:p.Pro169=
XM_011515274.1:c.330G>C	XP_011513576.1:p.Pro110=
XM_011515274.2:c.330G>C	XP_011513576.1:p.Pro110=
XM_017011997.1:c.504G>C	XP_016867486.1:p.Pro168=
NM_000168.6:c.507G>C MANE Select	NP_000159.3:p.Pro169=