Canonical Allele Identifier: CA367550174

Gene: GLI3

Linked Data

• dbSNP Id: rs573909106
• gnomAD v4: 7-42148231-T-A
• MyVariant Identifiers: chr7:g.42187830T>A (hg19) ; chr7:g.42148231T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.42148231T>A , CM000669.2:g.42148231T>A	GRCh38
NC_000007.13:g.42187830T>A , CM000669.1:g.42187830T>A	GRCh37
NC_000007.12:g.42154355T>A	NCBI36
NG_008434.1:g.93789A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000395925.8:c.362A>T MANE Select	ENSP00000379258.3:p.His121Leu
ENST00000642432.1:c.185A>T	ENSP00000495498.1:p.His62Leu
ENST00000643264.1:c.185A>T	ENSP00000495207.1:p.His62Leu
ENST00000647255.1:c.185A>T	ENSP00000495745.1:p.His62Leu
ENST00000677288.1:c.185A>T	ENSP00000503986.1:p.His62Leu
ENST00000677605.1:c.362A>T	ENSP00000503743.1:p.His121Leu
ENST00000678429.1:c.362A>T	ENSP00000502957.1:p.His121Leu
ENST00000395925.7:c.362A>T	ENSP00000379258.3:p.His121Leu
ENST00000448703.5:c.362A>T	ENSP00000406135.1:p.His121Leu
ENST00000479210.1:n.339A>T
NM_000168.5:c.362A>T	NP_000159.3:p.His121Leu
XM_005249703.1:c.362A>T	XP_005249760.1:p.His121Leu
XM_005249704.2:c.362A>T	XP_005249761.1:p.His121Leu
XM_011515272.1:c.362A>T	XP_011513574.1:p.His121Leu
XM_011515273.1:c.362A>T	XP_011513575.1:p.His121Leu
XM_011515274.1:c.185A>T	XP_011513576.1:p.His62Leu
XM_011515274.2:c.185A>T	XP_011513576.1:p.His62Leu
XM_017011997.1:c.359A>T	XP_016867486.1:p.His120Leu
NM_000168.6:c.362A>T MANE Select	NP_000159.3:p.His121Leu