Canonical Allele Identifier: CA454656169
Gene: GLI3 HGNC NCBI

Linked Data

gnomAD v4: 7-41964411-G-T
MyVariant Identifiers: chr7:g.42004009G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.41964411G>T , CM000669.2:g.41964411G>T GRCh38
NC_000007.13:g.42004009G>T , CM000669.1:g.42004009G>T GRCh37
NC_000007.12:g.41970534G>T NCBI36
NG_008434.1:g.277610C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000395925.8:c.4662C>A MANE Select ENSP00000379258.3:p.Thr1554=
ENST00000677288.1:c.4488C>A ENSP00000503986.1:p.Thr1496=
ENST00000677605.1:c.4662C>A ENSP00000503743.1:p.Thr1554=
ENST00000678429.1:c.4662C>A ENSP00000502957.1:p.Thr1554=
ENST00000395925.7:c.4662C>A ENSP00000379258.3:p.Thr1554=
ENST00000479210.1:n.4639C>A
NM_000168.5:c.4662C>A NP_000159.3:p.Thr1554=
XM_005249703.1:c.4662C>A XP_005249760.1:p.Thr1554=
XM_005249704.2:c.4662C>A XP_005249761.1:p.Thr1554=
XM_011515272.1:c.4662C>A XP_011513574.1:p.Thr1554=
XM_011515273.1:c.4662C>A XP_011513575.1:p.Thr1554=
XM_011515274.1:c.4485C>A XP_011513576.1:p.Thr1495=
XM_011515274.2:c.4485C>A XP_011513576.1:p.Thr1495=
XM_017011997.1:c.4659C>A XP_016867486.1:p.Thr1553=
NM_000168.6:c.4662C>A MANE Select NP_000159.3:p.Thr1554=