Canonical Allele Identifier: CA383238687

Gene: FLI1

Linked Data

• ClinVar Variation Id: 1684367
• ClinVar RCV Id: RCV002245373
• dbSNP Id: rs2135925063
• MyVariant Identifiers: chr11:g.128680470G>T (hg19) ; chr11:g.128810575G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128810575G>T , CM000673.2:g.128810575G>T	GRCh38
NC_000011.9:g.128680470G>T , CM000673.1:g.128680470G>T	GRCh37
NC_000011.8:g.128185680G>T	NCBI36
NG_032912.1:g.129041G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696982.1:c.967G>T	ENSP00000513017.1:p.Glu323Ter
ENST00000527786.7:c.946G>T MANE Select	ENSP00000433488.2:p.Glu316Ter
ENST00000281428.12:c.748G>T	ENSP00000281428.8:p.Glu250Ter
ENST00000344954.10:c.367G>T	ENSP00000339627.7:p.Glu123Ter
ENST00000429175.7:c.*868G>T	ENSP00000399985.3:n.*868G>T
ENST00000527786.6:c.946G>T	ENSP00000433488.2:p.Glu316Ter
ENST00000528790.1:n.3529G>T
ENST00000534087.3:c.847G>T	ENSP00000432950.1:p.Glu283Ter
ENST00000608303.5:c.*338G>T	ENSP00000477262.1:n.*338G>T
NM_001167681.2:c.847G>T	NP_001161153.1:p.Glu283Ter
NM_001271010.1:c.748G>T	NP_001257939.1:p.Glu250Ter
NM_001271012.1:c.367G>T	NP_001257941.1:p.Glu123Ter
NM_002017.4:c.946G>T	NP_002008.2:p.Glu316Ter
XM_011542701.1:c.847G>T	XP_011541003.1:p.Glu283Ter
XM_011542702.1:c.820G>T	XP_011541004.1:p.Glu274Ter
XM_011542701.2:c.847G>T	XP_011541003.1:p.Glu283Ter
XM_017017405.1:c.847G>T	XP_016872894.1:p.Glu283Ter
XM_017017406.1:c.847G>T	XP_016872895.1:p.Glu283Ter
NM_002017.5:c.946G>T MANE Select	NP_002008.2:p.Glu316Ter
NM_001167681.3:c.847G>T	NP_001161153.1:p.Glu283Ter
NM_001271010.2:c.748G>T	NP_001257939.1:p.Glu250Ter
NM_001271012.2:c.367G>T	NP_001257941.1:p.Glu123Ter