Canonical Allele Identifier: CA367321492

Gene: GLI3

Linked Data

• dbSNP Id: rs140048578
• gnomAD v2: 7-42007380-T-G
• gnomAD v4: 7-41967782-T-G
• MyVariant Identifiers: chr7:g.42007380T>G (hg19) ; chr7:g.41967782T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.41967782T>G , CM000669.2:g.41967782T>G	GRCh38
NC_000007.13:g.42007380T>G , CM000669.1:g.42007380T>G	GRCh37
NC_000007.12:g.41973905T>G	NCBI36
NG_008434.1:g.274239A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395925.8:c.2245A>C MANE Select	ENSP00000379258.3:p.Ile749Leu
ENST00000677288.1:c.2071A>C	ENSP00000503986.1:p.Ile691Leu
ENST00000677605.1:c.2245A>C	ENSP00000503743.1:p.Ile749Leu
ENST00000678429.1:c.2245A>C	ENSP00000502957.1:p.Ile749Leu
ENST00000395925.7:c.2245A>C	ENSP00000379258.3:p.Ile749Leu
ENST00000479210.1:n.2222A>C
NM_000168.5:c.2245A>C	NP_000159.3:p.Ile749Leu
XM_005249703.1:c.2245A>C	XP_005249760.1:p.Ile749Leu
XM_005249704.2:c.2245A>C	XP_005249761.1:p.Ile749Leu
XM_011515272.1:c.2245A>C	XP_011513574.1:p.Ile749Leu
XM_011515273.1:c.2245A>C	XP_011513575.1:p.Ile749Leu
XM_011515274.1:c.2068A>C	XP_011513576.1:p.Ile690Leu
XM_011515274.2:c.2068A>C	XP_011513576.1:p.Ile690Leu
XM_017011997.1:c.2242A>C	XP_016867486.1:p.Ile748Leu
NM_000168.6:c.2245A>C MANE Select	NP_000159.3:p.Ile749Leu