Canonical Allele Identifier: CA454661827

Gene: GLI3

Linked Data

• ClinVar Variation Id: 2129747
• ClinVar RCV Id: RCV003050154
• gnomAD v4: 7-41965941-G-C
• MyVariant Identifiers: chr7:g.42005539G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.41965941G>C , CM000669.2:g.41965941G>C	GRCh38
NC_000007.13:g.42005539G>C , CM000669.1:g.42005539G>C	GRCh37
NC_000007.12:g.41972064G>C	NCBI36
NG_008434.1:g.276080C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395925.8:c.3132C>G MANE Select	ENSP00000379258.3:p.Leu1044=
ENST00000677288.1:c.2958C>G	ENSP00000503986.1:p.Leu986=
ENST00000677605.1:c.3132C>G	ENSP00000503743.1:p.Leu1044=
ENST00000678429.1:c.3132C>G	ENSP00000502957.1:p.Leu1044=
ENST00000395925.7:c.3132C>G	ENSP00000379258.3:p.Leu1044=
ENST00000479210.1:n.3109C>G
NM_000168.5:c.3132C>G	NP_000159.3:p.Leu1044=
XM_005249703.1:c.3132C>G	XP_005249760.1:p.Leu1044=
XM_005249704.2:c.3132C>G	XP_005249761.1:p.Leu1044=
XM_011515272.1:c.3132C>G	XP_011513574.1:p.Leu1044=
XM_011515273.1:c.3132C>G	XP_011513575.1:p.Leu1044=
XM_011515274.1:c.2955C>G	XP_011513576.1:p.Leu985=
XM_011515274.2:c.2955C>G	XP_011513576.1:p.Leu985=
XM_017011997.1:c.3129C>G	XP_016867486.1:p.Leu1043=
NM_000168.6:c.3132C>G MANE Select	NP_000159.3:p.Leu1044=