Canonical Allele Identifier: CA367319653

Gene: GLI3

Linked Data

• ClinVar Variation Id: 1510633
• ClinVar RCV Id: RCV002014013
• dbSNP Id: rs1370106320
• gnomAD v2: 7-42005696-A-G
• gnomAD v4: 7-41966098-A-G
• MyVariant Identifiers: chr7:g.42005696A>G (hg19) ; chr7:g.41966098A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.41966098A>G , CM000669.2:g.41966098A>G	GRCh38
NC_000007.13:g.42005696A>G , CM000669.1:g.42005696A>G	GRCh37
NC_000007.12:g.41972221A>G	NCBI36
NG_008434.1:g.275923T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395925.8:c.2975T>C MANE Select	ENSP00000379258.3:p.Leu992Pro
ENST00000677288.1:c.2801T>C	ENSP00000503986.1:p.Leu934Pro
ENST00000677605.1:c.2975T>C	ENSP00000503743.1:p.Leu992Pro
ENST00000678429.1:c.2975T>C	ENSP00000502957.1:p.Leu992Pro
ENST00000395925.7:c.2975T>C	ENSP00000379258.3:p.Leu992Pro
ENST00000479210.1:n.2952T>C
NM_000168.5:c.2975T>C	NP_000159.3:p.Leu992Pro
XM_005249703.1:c.2975T>C	XP_005249760.1:p.Leu992Pro
XM_005249704.2:c.2975T>C	XP_005249761.1:p.Leu992Pro
XM_011515272.1:c.2975T>C	XP_011513574.1:p.Leu992Pro
XM_011515273.1:c.2975T>C	XP_011513575.1:p.Leu992Pro
XM_011515274.1:c.2798T>C	XP_011513576.1:p.Leu933Pro
XM_011515274.2:c.2798T>C	XP_011513576.1:p.Leu933Pro
XM_017011997.1:c.2972T>C	XP_016867486.1:p.Leu991Pro
NM_000168.6:c.2975T>C MANE Select	NP_000159.3:p.Leu992Pro