Canonical Allele Identifier: CA838639279

Gene: GLI3

Linked Data

• dbSNP Id: rs944625267
• gnomAD v4: 7-42236998-C-A
• MyVariant Identifiers: chr7:g.42276597C>A (hg19) ; chr7:g.42236998C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.42236998C>A , CM000669.2:g.42236998C>A	GRCh38
NC_000007.13:g.42276597C>A , CM000669.1:g.42276597C>A	GRCh37
NC_000007.12:g.42243122C>A	NCBI36
NG_008434.1:g.5022G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000395925.8:c.-70G>T MANE Select	ENSP00000379258.3:n.-70G>T
ENST00000428534.2:c.-43+786G>T	ENSP00000503957.1:n.-43+786G>T
ENST00000677605.1:c.-43+501G>T	ENSP00000503743.1:n.-43+501G>T
ENST00000677990.1:n.212G>T
ENST00000678978.1:c.-42-13703G>T	ENSP00000503352.1:n.-42-13703G>T
ENST00000395925.7:c.-70G>T	ENSP00000379258.3:n.-70G>T
ENST00000428534.1:n.87+786G>T
ENST00000437480.1:c.-70G>T	ENSP00000407963.1:n.-70G>T
NM_000168.5:c.-70G>T	NP_000159.3:n.-70G>T
XM_005249703.1:c.-43+786G>T	XP_005249760.1:n.-43+786G>T
XM_005249704.2:c.-43+501G>T	XP_005249761.1:n.-43+501G>T
XM_011515273.1:c.-42-13703G>T	XP_011513575.1:n.-42-13703G>T
NM_000168.6:c.-70G>T MANE Select	NP_000159.3:n.-70G>T