Canonical Allele Identifier: CA4230401

Gene: GLI3

Linked Data

• dbSNP Id: rs745669536
• ExAC: 7:42005377 C / G
• gnomAD v2: 7-42005377-C-G
• gnomAD v4: 7-41965779-C-G
• MyVariant Identifiers: chr7:g.42005377C>G (hg19) ; chr7:g.41965779C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.41965779C>G , CM000669.2:g.41965779C>G	GRCh38
NC_000007.13:g.42005377C>G , CM000669.1:g.42005377C>G	GRCh37
NC_000007.12:g.41971902C>G	NCBI36
NG_008434.1:g.276242G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395925.8:c.3294G>C MANE Select	ENSP00000379258.3:p.Gln1098His
ENST00000677288.1:c.3120G>C	ENSP00000503986.1:p.Gln1040His
ENST00000677605.1:c.3294G>C	ENSP00000503743.1:p.Gln1098His
ENST00000678429.1:c.3294G>C	ENSP00000502957.1:p.Gln1098His
ENST00000395925.7:c.3294G>C	ENSP00000379258.3:p.Gln1098His
ENST00000479210.1:n.3271G>C
NM_000168.5:c.3294G>C	NP_000159.3:p.Gln1098His
XM_005249703.1:c.3294G>C	XP_005249760.1:p.Gln1098His
XM_005249704.2:c.3294G>C	XP_005249761.1:p.Gln1098His
XM_011515272.1:c.3294G>C	XP_011513574.1:p.Gln1098His
XM_011515273.1:c.3294G>C	XP_011513575.1:p.Gln1098His
XM_011515274.1:c.3117G>C	XP_011513576.1:p.Gln1039His
XM_011515274.2:c.3117G>C	XP_011513576.1:p.Gln1039His
XM_017011997.1:c.3291G>C	XP_016867486.1:p.Gln1097His
NM_000168.6:c.3294G>C MANE Select	NP_000159.3:p.Gln1098His