Canonical Allele Identifier: CA157291412

Gene: GLI3

Linked Data

• dbSNP Id: rs576182349
• gnomAD v2: 7-42229871-G-A
• gnomAD v3: 7-42190272-G-A
• gnomAD v4: 7-42190272-G-A
• MyVariant Identifiers: chr7:g.42229871G>A (hg19) ; chr7:g.42190272G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.42190272G>A , CM000669.2:g.42190272G>A	GRCh38
NC_000007.13:g.42229871G>A , CM000669.1:g.42229871G>A	GRCh37
NC_000007.12:g.42196396G>A	NCBI36
NG_008434.1:g.51748C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000395925.8:c.124+32858C>T MANE Select	ENSP00000379258.3:n.124+32858C>T
ENST00000677605.1:c.124+32858C>T	ENSP00000503743.1:n.124+32858C>T
ENST00000678429.1:c.124+32858C>T	ENSP00000502957.1:n.124+32858C>T
ENST00000395925.7:c.124+32858C>T	ENSP00000379258.3:n.124+32858C>T
ENST00000437480.1:c.125-17586C>T	ENSP00000407963.1:n.125-17586C>T
ENST00000448703.5:c.124+32858C>T	ENSP00000406135.1:n.124+32858C>T
NM_000168.5:c.124+32858C>T	NP_000159.3:n.124+32858C>T
XM_005249703.1:c.124+32858C>T	XP_005249760.1:n.124+32858C>T
XM_005249704.2:c.124+32858C>T	XP_005249761.1:n.124+32858C>T
XM_011515272.1:c.124+32858C>T	XP_011513574.1:n.124+32858C>T
XM_011515273.1:c.124+32858C>T	XP_011513575.1:n.124+32858C>T
NM_000168.6:c.124+32858C>T MANE Select	NP_000159.3:n.124+32858C>T