Canonical Allele Identifier: CA12631476

Gene: GLI3

Linked Data

• ClinVar Variation Id: 1252384
• ClinVar RCV Id: RCV001658685
• dbSNP Id: rs846265
• gnomAD v2: 7-42088470-A-C
• gnomAD v3: 7-42048871-A-C
• gnomAD v4: 7-42048871-A-C
• MyVariant Identifiers: chr7:g.42088470A>C (hg19) ; chr7:g.42048871A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.42048871A>C , CM000669.2:g.42048871A>C	GRCh38
NC_000007.13:g.42088470A>C , CM000669.1:g.42088470A>C	GRCh37
NC_000007.12:g.42054995A>C	NCBI36
NG_008434.1:g.193149T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395925.8:c.474-175T>G MANE Select	ENSP00000379258.3:n.474-175T>G
ENST00000677288.1:c.297-175T>G	ENSP00000503986.1:n.297-175T>G
ENST00000677605.1:c.474-175T>G	ENSP00000503743.1:n.474-175T>G
ENST00000678429.1:c.474-175T>G	ENSP00000502957.1:n.474-175T>G
ENST00000395925.7:c.474-175T>G	ENSP00000379258.3:n.474-175T>G
ENST00000448703.5:c.474-175T>G	ENSP00000406135.1:n.474-175T>G
ENST00000479210.1:n.451-175T>G
NM_000168.5:c.474-175T>G	NP_000159.3:n.474-175T>G
XM_005249703.1:c.474-175T>G	XP_005249760.1:n.474-175T>G
XM_005249704.2:c.474-175T>G	XP_005249761.1:n.474-175T>G
XM_011515272.1:c.474-175T>G	XP_011513574.1:n.474-175T>G
XM_011515273.1:c.474-175T>G	XP_011513575.1:n.474-175T>G
XM_011515274.1:c.297-175T>G	XP_011513576.1:n.297-175T>G
XM_011515274.2:c.297-175T>G	XP_011513576.1:n.297-175T>G
XM_017011997.1:c.471-175T>G	XP_016867486.1:n.471-175T>G
NM_000168.6:c.474-175T>G MANE Select	NP_000159.3:n.474-175T>G