Canonical Allele Identifier: CA454662377

Gene: GLI3

Linked Data

• dbSNP Id: rs368061722
• gnomAD v4: 7-41965722-C-A
• MyVariant Identifiers: chr7:g.42005320C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.41965722C>A , CM000669.2:g.41965722C>A	GRCh38
NC_000007.13:g.42005320C>A , CM000669.1:g.42005320C>A	GRCh37
NC_000007.12:g.41971845C>A	NCBI36
NG_008434.1:g.276299G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395925.8:c.3351G>T MANE Select	ENSP00000379258.3:p.Pro1117=
ENST00000677288.1:c.3177G>T	ENSP00000503986.1:p.Pro1059=
ENST00000677605.1:c.3351G>T	ENSP00000503743.1:p.Pro1117=
ENST00000678429.1:c.3351G>T	ENSP00000502957.1:p.Pro1117=
ENST00000395925.7:c.3351G>T	ENSP00000379258.3:p.Pro1117=
ENST00000479210.1:n.3328G>T
NM_000168.5:c.3351G>T	NP_000159.3:p.Pro1117=
XM_005249703.1:c.3351G>T	XP_005249760.1:p.Pro1117=
XM_005249704.2:c.3351G>T	XP_005249761.1:p.Pro1117=
XM_011515272.1:c.3351G>T	XP_011513574.1:p.Pro1117=
XM_011515273.1:c.3351G>T	XP_011513575.1:p.Pro1117=
XM_011515274.1:c.3174G>T	XP_011513576.1:p.Pro1058=
XM_011515274.2:c.3174G>T	XP_011513576.1:p.Pro1058=
XM_017011997.1:c.3348G>T	XP_016867486.1:p.Pro1116=
NM_000168.6:c.3351G>T MANE Select	NP_000159.3:p.Pro1117=