Canonical Allele Identifier: CA383239095

Gene: FLI1

Linked Data

• ClinVar Variation Id: 2629718
• ClinVar RCV Id: RCV003414339
• gnomAD v4: 11-128810752-G-A
• MyVariant Identifiers: chr11:g.128680647G>A (hg19) ; chr11:g.128810752G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128810752G>A , CM000673.2:g.128810752G>A	GRCh38
NC_000011.9:g.128680647G>A , CM000673.1:g.128680647G>A	GRCh37
NC_000011.8:g.128185857G>A	NCBI36
NG_032912.1:g.129218G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696982.1:c.1144G>A	ENSP00000513017.1:p.Glu382Lys
ENST00000527786.7:c.1123G>A MANE Select	ENSP00000433488.2:p.Glu375Lys
ENST00000281428.12:c.925G>A	ENSP00000281428.8:p.Glu309Lys
ENST00000344954.10:c.544G>A	ENSP00000339627.7:p.Glu182Lys
ENST00000429175.7:c.*1045G>A	ENSP00000399985.3:n.*1045G>A
ENST00000527786.6:c.1123G>A	ENSP00000433488.2:p.Glu375Lys
ENST00000528790.1:n.3706G>A
ENST00000534087.3:c.1024G>A	ENSP00000432950.1:p.Glu342Lys
ENST00000608303.5:c.*515G>A	ENSP00000477262.1:n.*515G>A
NM_001167681.2:c.1024G>A	NP_001161153.1:p.Glu342Lys
NM_001271010.1:c.925G>A	NP_001257939.1:p.Glu309Lys
NM_001271012.1:c.544G>A	NP_001257941.1:p.Glu182Lys
NM_002017.4:c.1123G>A	NP_002008.2:p.Glu375Lys
XM_011542701.1:c.1024G>A	XP_011541003.1:p.Glu342Lys
XM_011542702.1:c.997G>A	XP_011541004.1:p.Glu333Lys
XM_011542701.2:c.1024G>A	XP_011541003.1:p.Glu342Lys
XM_017017405.1:c.1024G>A	XP_016872894.1:p.Glu342Lys
XM_017017406.1:c.1024G>A	XP_016872895.1:p.Glu342Lys
NM_002017.5:c.1123G>A MANE Select	NP_002008.2:p.Glu375Lys
NM_001167681.3:c.1024G>A	NP_001161153.1:p.Glu342Lys
NM_001271010.2:c.925G>A	NP_001257939.1:p.Glu309Lys
NM_001271012.2:c.544G>A	NP_001257941.1:p.Glu182Lys