Canonical Allele Identifier: CA4231154

Gene: GLI3

Linked Data

• dbSNP Id: rs766376553
• ExAC: 7:42088251 A / G
• gnomAD v2: 7-42088251-A-G
• gnomAD v4: 7-42048652-A-G
• MyVariant Identifiers: chr7:g.42088251A>G (hg19) ; chr7:g.42048652A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.42048652A>G , CM000669.2:g.42048652A>G	GRCh38
NC_000007.13:g.42088251A>G , CM000669.1:g.42088251A>G	GRCh37
NC_000007.12:g.42054776A>G	NCBI36
NG_008434.1:g.193368T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395925.8:c.518T>C MANE Select	ENSP00000379258.3:p.Phe173Ser
ENST00000677288.1:c.341T>C	ENSP00000503986.1:p.Phe114Ser
ENST00000677605.1:c.518T>C	ENSP00000503743.1:p.Phe173Ser
ENST00000678429.1:c.518T>C	ENSP00000502957.1:p.Phe173Ser
ENST00000395925.7:c.518T>C	ENSP00000379258.3:p.Phe173Ser
ENST00000448703.5:c.518T>C	ENSP00000406135.1:p.Phe173Ser
ENST00000479210.1:n.495T>C
NM_000168.5:c.518T>C	NP_000159.3:p.Phe173Ser
XM_005249703.1:c.518T>C	XP_005249760.1:p.Phe173Ser
XM_005249704.2:c.518T>C	XP_005249761.1:p.Phe173Ser
XM_011515272.1:c.518T>C	XP_011513574.1:p.Phe173Ser
XM_011515273.1:c.518T>C	XP_011513575.1:p.Phe173Ser
XM_011515274.1:c.341T>C	XP_011513576.1:p.Phe114Ser
XM_011515274.2:c.341T>C	XP_011513576.1:p.Phe114Ser
XM_017011997.1:c.515T>C	XP_016867486.1:p.Phe172Ser
NM_000168.6:c.518T>C MANE Select	NP_000159.3:p.Phe173Ser