Canonical Allele Identifier: CA454662358

Gene: GLI3

Linked Data

• gnomAD v4: 7-41965713-G-A
• MyVariant Identifiers: chr7:g.42005311G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.41965713G>A , CM000669.2:g.41965713G>A	GRCh38
NC_000007.13:g.42005311G>A , CM000669.1:g.42005311G>A	GRCh37
NC_000007.12:g.41971836G>A	NCBI36
NG_008434.1:g.276308C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395925.8:c.3360C>T MANE Select	ENSP00000379258.3:p.Ser1120=
ENST00000677288.1:c.3186C>T	ENSP00000503986.1:p.Ser1062=
ENST00000677605.1:c.3360C>T	ENSP00000503743.1:p.Ser1120=
ENST00000678429.1:c.3360C>T	ENSP00000502957.1:p.Ser1120=
ENST00000395925.7:c.3360C>T	ENSP00000379258.3:p.Ser1120=
ENST00000479210.1:n.3337C>T
NM_000168.5:c.3360C>T	NP_000159.3:p.Ser1120=
XM_005249703.1:c.3360C>T	XP_005249760.1:p.Ser1120=
XM_005249704.2:c.3360C>T	XP_005249761.1:p.Ser1120=
XM_011515272.1:c.3360C>T	XP_011513574.1:p.Ser1120=
XM_011515273.1:c.3360C>T	XP_011513575.1:p.Ser1120=
XM_011515274.1:c.3183C>T	XP_011513576.1:p.Ser1061=
XM_011515274.2:c.3183C>T	XP_011513576.1:p.Ser1061=
XM_017011997.1:c.3357C>T	XP_016867486.1:p.Ser1119=
NM_000168.6:c.3360C>T MANE Select	NP_000159.3:p.Ser1120=