Canonical Allele Identifier: CA454657441
Gene: GLI3 HGNC NCBI

Linked Data

dbSNP Id: rs2128704930
MyVariant Identifiers: chr7:g.42004324G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.41964726G>A , CM000669.2:g.41964726G>A GRCh38
NC_000007.13:g.42004324G>A , CM000669.1:g.42004324G>A GRCh37
NC_000007.12:g.41970849G>A NCBI36
NG_008434.1:g.277295C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000395925.8:c.4347C>T MANE Select ENSP00000379258.3:p.Gly1449=
ENST00000677288.1:c.4173C>T ENSP00000503986.1:p.Gly1391=
ENST00000677605.1:c.4347C>T ENSP00000503743.1:p.Gly1449=
ENST00000678429.1:c.4347C>T ENSP00000502957.1:p.Gly1449=
ENST00000395925.7:c.4347C>T ENSP00000379258.3:p.Gly1449=
ENST00000479210.1:n.4324C>T
NM_000168.5:c.4347C>T NP_000159.3:p.Gly1449=
XM_005249703.1:c.4347C>T XP_005249760.1:p.Gly1449=
XM_005249704.2:c.4347C>T XP_005249761.1:p.Gly1449=
XM_011515272.1:c.4347C>T XP_011513574.1:p.Gly1449=
XM_011515273.1:c.4347C>T XP_011513575.1:p.Gly1449=
XM_011515274.1:c.4170C>T XP_011513576.1:p.Gly1390=
XM_011515274.2:c.4170C>T XP_011513576.1:p.Gly1390=
XM_017011997.1:c.4344C>T XP_016867486.1:p.Gly1448=
NM_000168.6:c.4347C>T MANE Select NP_000159.3:p.Gly1449=