Canonical Allele Identifier: CA454533435

Gene: GLI3

Linked Data

• dbSNP Id: rs780215756
• gnomAD v2: 7-42079708-C-G
• gnomAD v4: 7-42040109-C-G
• MyVariant Identifiers: chr7:g.42079708C>G (hg19) ; chr7:g.42040109C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.42040109C>G , CM000669.2:g.42040109C>G	GRCh38
NC_000007.13:g.42079708C>G , CM000669.1:g.42079708C>G	GRCh37
NC_000007.12:g.42046233C>G	NCBI36
NG_008434.1:g.201911G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000395925.8:c.957G>C MANE Select	ENSP00000379258.3:p.Thr319=
ENST00000677288.1:c.780G>C	ENSP00000503986.1:p.Thr260=
ENST00000677605.1:c.957G>C	ENSP00000503743.1:p.Thr319=
ENST00000678429.1:c.957G>C	ENSP00000502957.1:p.Thr319=
ENST00000395925.7:c.957G>C	ENSP00000379258.3:p.Thr319=
ENST00000479210.1:n.934G>C
NM_000168.5:c.957G>C	NP_000159.3:p.Thr319=
XM_005249703.1:c.957G>C	XP_005249760.1:p.Thr319=
XM_005249704.2:c.957G>C	XP_005249761.1:p.Thr319=
XM_011515272.1:c.957G>C	XP_011513574.1:p.Thr319=
XM_011515273.1:c.957G>C	XP_011513575.1:p.Thr319=
XM_011515274.1:c.780G>C	XP_011513576.1:p.Thr260=
XM_011515274.2:c.780G>C	XP_011513576.1:p.Thr260=
XM_017011997.1:c.954G>C	XP_016867486.1:p.Thr318=
NM_000168.6:c.957G>C MANE Select	NP_000159.3:p.Thr319=