Canonical Allele Identifier: CA4230480

Gene: GLI3

Linked Data

• ClinVar Variation Id: 255433
• ClinVar RCV Id: RCV000245039 ; RCV000274578 ; RCV000311017 ; RCV000366034 ; RCV001523404 ; RCV001682959 ; RCV001701713 ; RCV001701714
• dbSNP Id: rs929387
• ExAC: 7:42005678 G / A
• gnomAD v2: 7-42005678-G-A
• gnomAD v3: 7-41966080-G-A
• gnomAD v4: 7-41966080-G-A
• MyVariant Identifiers: chr7:g.42005678G>A (hg19) ; chr7:g.41966080G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.41966080G>A , CM000669.2:g.41966080G>A	GRCh38
NC_000007.13:g.42005678G>A , CM000669.1:g.42005678G>A	GRCh37
NC_000007.12:g.41972203G>A	NCBI36
NG_008434.1:g.275941C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395925.8:c.2993C>T MANE Select	ENSP00000379258.3:p.Pro998Leu
ENST00000677288.1:c.2819C>T	ENSP00000503986.1:p.Pro940Leu
ENST00000677605.1:c.2993C>T	ENSP00000503743.1:p.Pro998Leu
ENST00000678429.1:c.2993C>T	ENSP00000502957.1:p.Pro998Leu
ENST00000395925.7:c.2993C>T	ENSP00000379258.3:p.Pro998Leu
ENST00000479210.1:n.2970C>T
NM_000168.5:c.2993C>T	NP_000159.3:p.Pro998Leu
XM_005249703.1:c.2993C>T	XP_005249760.1:p.Pro998Leu
XM_005249704.2:c.2993C>T	XP_005249761.1:p.Pro998Leu
XM_011515272.1:c.2993C>T	XP_011513574.1:p.Pro998Leu
XM_011515273.1:c.2993C>T	XP_011513575.1:p.Pro998Leu
XM_011515274.1:c.2816C>T	XP_011513576.1:p.Pro939Leu
XM_011515274.2:c.2816C>T	XP_011513576.1:p.Pro939Leu
XM_017011997.1:c.2990C>T	XP_016867486.1:p.Pro997Leu
NM_000168.6:c.2993C>T MANE Select	NP_000159.3:p.Pro998Leu