Canonical Allele Identifier: CA367318388

Gene: GLI3

Linked Data

• gnomAD v4: 7-41965727-G-C
• MyVariant Identifiers: chr7:g.42005325G>C (hg19) ; chr7:g.41965727G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.41965727G>C , CM000669.2:g.41965727G>C	GRCh38
NC_000007.13:g.42005325G>C , CM000669.1:g.42005325G>C	GRCh37
NC_000007.12:g.41971850G>C	NCBI36
NG_008434.1:g.276294C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395925.8:c.3346C>G MANE Select	ENSP00000379258.3:p.Leu1116Val
ENST00000677288.1:c.3172C>G	ENSP00000503986.1:p.Leu1058Val
ENST00000677605.1:c.3346C>G	ENSP00000503743.1:p.Leu1116Val
ENST00000678429.1:c.3346C>G	ENSP00000502957.1:p.Leu1116Val
ENST00000395925.7:c.3346C>G	ENSP00000379258.3:p.Leu1116Val
ENST00000479210.1:n.3323C>G
NM_000168.5:c.3346C>G	NP_000159.3:p.Leu1116Val
XM_005249703.1:c.3346C>G	XP_005249760.1:p.Leu1116Val
XM_005249704.2:c.3346C>G	XP_005249761.1:p.Leu1116Val
XM_011515272.1:c.3346C>G	XP_011513574.1:p.Leu1116Val
XM_011515273.1:c.3346C>G	XP_011513575.1:p.Leu1116Val
XM_011515274.1:c.3169C>G	XP_011513576.1:p.Leu1057Val
XM_011515274.2:c.3169C>G	XP_011513576.1:p.Leu1057Val
XM_017011997.1:c.3343C>G	XP_016867486.1:p.Leu1115Val
NM_000168.6:c.3346C>G MANE Select	NP_000159.3:p.Leu1116Val