Canonical Allele Identifier: CA367319097

Gene: GLI3

Linked Data

• gnomAD v4: 7-41965942-A-T
• MyVariant Identifiers: chr7:g.42005540A>T (hg19) ; chr7:g.41965942A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.41965942A>T , CM000669.2:g.41965942A>T	GRCh38
NC_000007.13:g.42005540A>T , CM000669.1:g.42005540A>T	GRCh37
NC_000007.12:g.41972065A>T	NCBI36
NG_008434.1:g.276079T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395925.8:c.3131T>A MANE Select	ENSP00000379258.3:p.Leu1044His
ENST00000677288.1:c.2957T>A	ENSP00000503986.1:p.Leu986His
ENST00000677605.1:c.3131T>A	ENSP00000503743.1:p.Leu1044His
ENST00000678429.1:c.3131T>A	ENSP00000502957.1:p.Leu1044His
ENST00000395925.7:c.3131T>A	ENSP00000379258.3:p.Leu1044His
ENST00000479210.1:n.3108T>A
NM_000168.5:c.3131T>A	NP_000159.3:p.Leu1044His
XM_005249703.1:c.3131T>A	XP_005249760.1:p.Leu1044His
XM_005249704.2:c.3131T>A	XP_005249761.1:p.Leu1044His
XM_011515272.1:c.3131T>A	XP_011513574.1:p.Leu1044His
XM_011515273.1:c.3131T>A	XP_011513575.1:p.Leu1044His
XM_011515274.1:c.2954T>A	XP_011513576.1:p.Leu985His
XM_011515274.2:c.2954T>A	XP_011513576.1:p.Leu985His
XM_017011997.1:c.3128T>A	XP_016867486.1:p.Leu1043His
NM_000168.6:c.3131T>A MANE Select	NP_000159.3:p.Leu1044His