Canonical Allele Identifier: CA367333179

Gene: GLI3

Linked Data

• dbSNP Id: rs1441163982
• gnomAD v2: 7-42088180-T-G
• gnomAD v4: 7-42048581-T-G
• MyVariant Identifiers: chr7:g.42088180T>G (hg19) ; chr7:g.42048581T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.42048581T>G , CM000669.2:g.42048581T>G	GRCh38
NC_000007.13:g.42088180T>G , CM000669.1:g.42088180T>G	GRCh37
NC_000007.12:g.42054705T>G	NCBI36
NG_008434.1:g.193439A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395925.8:c.589A>C MANE Select	ENSP00000379258.3:p.Ile197Leu
ENST00000677288.1:c.412A>C	ENSP00000503986.1:p.Ile138Leu
ENST00000677605.1:c.589A>C	ENSP00000503743.1:p.Ile197Leu
ENST00000678429.1:c.589A>C	ENSP00000502957.1:p.Ile197Leu
ENST00000395925.7:c.589A>C	ENSP00000379258.3:p.Ile197Leu
ENST00000479210.1:n.566A>C
NM_000168.5:c.589A>C	NP_000159.3:p.Ile197Leu
XM_005249703.1:c.589A>C	XP_005249760.1:p.Ile197Leu
XM_005249704.2:c.589A>C	XP_005249761.1:p.Ile197Leu
XM_011515272.1:c.589A>C	XP_011513574.1:p.Ile197Leu
XM_011515273.1:c.589A>C	XP_011513575.1:p.Ile197Leu
XM_011515274.1:c.412A>C	XP_011513576.1:p.Ile138Leu
XM_011515274.2:c.412A>C	XP_011513576.1:p.Ile138Leu
XM_017011997.1:c.586A>C	XP_016867486.1:p.Ile196Leu
NM_000168.6:c.589A>C MANE Select	NP_000159.3:p.Ile197Leu