Canonical Allele Identifier: CA130192

Gene: GLI3

Linked Data

• ClinVar Variation Id: 13825
• ClinVar RCV Id: RCV000030896
• dbSNP Id: rs28933372
• MyVariant Identifiers: chr7:g.42005871C>G (hg19) ; chr7:g.41966273C>G (hg38)
• PubMed: PMID:12414818 ; PMID:16740916

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.41966273C>G , CM000669.2:g.41966273C>G	GRCh38
NC_000007.13:g.42005871C>G , CM000669.1:g.42005871C>G	GRCh37
NC_000007.12:g.41972396C>G	NCBI36
NG_008434.1:g.275748G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395925.8:c.2800G>C MANE Select	ENSP00000379258.3:p.Ala934Pro
ENST00000677288.1:c.2626G>C	ENSP00000503986.1:p.Ala876Pro
ENST00000677605.1:c.2800G>C	ENSP00000503743.1:p.Ala934Pro
ENST00000678429.1:c.2800G>C	ENSP00000502957.1:p.Ala934Pro
ENST00000395925.7:c.2800G>C	ENSP00000379258.3:p.Ala934Pro
ENST00000479210.1:n.2777G>C
NM_000168.5:c.2800G>C	NP_000159.3:p.Ala934Pro
XM_005249703.1:c.2800G>C	XP_005249760.1:p.Ala934Pro
XM_005249704.2:c.2800G>C	XP_005249761.1:p.Ala934Pro
XM_011515272.1:c.2800G>C	XP_011513574.1:p.Ala934Pro
XM_011515273.1:c.2800G>C	XP_011513575.1:p.Ala934Pro
XM_011515274.1:c.2623G>C	XP_011513576.1:p.Ala875Pro
XM_011515274.2:c.2623G>C	XP_011513576.1:p.Ala875Pro
XM_017011997.1:c.2797G>C	XP_016867486.1:p.Ala933Pro
NM_000168.6:c.2800G>C MANE Select	NP_000159.3:p.Ala934Pro