Canonical Allele Identifier: CA454525160

Gene: GLI3

Linked Data

• dbSNP Id: rs1787232818
• gnomAD v4: 7-41967885-G-A
• MyVariant Identifiers: chr7:g.42007483G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.41967885G>A , CM000669.2:g.41967885G>A	GRCh38
NC_000007.13:g.42007483G>A , CM000669.1:g.42007483G>A	GRCh37
NC_000007.12:g.41974008G>A	NCBI36
NG_008434.1:g.274136C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000395925.8:c.2142C>T MANE Select	ENSP00000379258.3:p.Ser714=
ENST00000677288.1:c.1968C>T	ENSP00000503986.1:p.Ser656=
ENST00000677605.1:c.2142C>T	ENSP00000503743.1:p.Ser714=
ENST00000678429.1:c.2142C>T	ENSP00000502957.1:p.Ser714=
ENST00000395925.7:c.2142C>T	ENSP00000379258.3:p.Ser714=
ENST00000479210.1:n.2119C>T
NM_000168.5:c.2142C>T	NP_000159.3:p.Ser714=
XM_005249703.1:c.2142C>T	XP_005249760.1:p.Ser714=
XM_005249704.2:c.2142C>T	XP_005249761.1:p.Ser714=
XM_011515272.1:c.2142C>T	XP_011513574.1:p.Ser714=
XM_011515273.1:c.2142C>T	XP_011513575.1:p.Ser714=
XM_011515274.1:c.1965C>T	XP_011513576.1:p.Ser655=
XM_011515274.2:c.1965C>T	XP_011513576.1:p.Ser655=
XM_017011997.1:c.2139C>T	XP_016867486.1:p.Ser713=
NM_000168.6:c.2142C>T MANE Select	NP_000159.3:p.Ser714=