Canonical Allele Identifier: CA4230483

Gene: GLI3

Linked Data

• dbSNP Id: rs748566565
• ExAC: 7:42005685 C / A
• gnomAD v2: 7-42005685-C-A
• gnomAD v3: 7-41966087-C-A
• gnomAD v4: 7-41966087-C-A
• MyVariant Identifiers: chr7:g.42005685C>A (hg19) ; chr7:g.41966087C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.41966087C>A , CM000669.2:g.41966087C>A	GRCh38
NC_000007.13:g.42005685C>A , CM000669.1:g.42005685C>A	GRCh37
NC_000007.12:g.41972210C>A	NCBI36
NG_008434.1:g.275934G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395925.8:c.2986G>T MANE Select	ENSP00000379258.3:p.Asp996Tyr
ENST00000677288.1:c.2812G>T	ENSP00000503986.1:p.Asp938Tyr
ENST00000677605.1:c.2986G>T	ENSP00000503743.1:p.Asp996Tyr
ENST00000678429.1:c.2986G>T	ENSP00000502957.1:p.Asp996Tyr
ENST00000395925.7:c.2986G>T	ENSP00000379258.3:p.Asp996Tyr
ENST00000479210.1:n.2963G>T
NM_000168.5:c.2986G>T	NP_000159.3:p.Asp996Tyr
XM_005249703.1:c.2986G>T	XP_005249760.1:p.Asp996Tyr
XM_005249704.2:c.2986G>T	XP_005249761.1:p.Asp996Tyr
XM_011515272.1:c.2986G>T	XP_011513574.1:p.Asp996Tyr
XM_011515273.1:c.2986G>T	XP_011513575.1:p.Asp996Tyr
XM_011515274.1:c.2809G>T	XP_011513576.1:p.Asp937Tyr
XM_011515274.2:c.2809G>T	XP_011513576.1:p.Asp937Tyr
XM_017011997.1:c.2983G>T	XP_016867486.1:p.Asp995Tyr
NM_000168.6:c.2986G>T MANE Select	NP_000159.3:p.Asp996Tyr