Canonical Allele Identifier: CA383238852

Gene: FLI1

Linked Data

• ClinVar Variation Id: 1684421
• ClinVar RCV Id: RCV002245427
• dbSNP Id: rs1131691896
• MyVariant Identifiers: chr11:g.128680543G>C (hg19) ; chr11:g.128810648G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128810648G>C , CM000673.2:g.128810648G>C	GRCh38
NC_000011.9:g.128680543G>C , CM000673.1:g.128680543G>C	GRCh37
NC_000011.8:g.128185753G>C	NCBI36
NG_032912.1:g.129114G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000696982.1:c.1040G>C	ENSP00000513017.1:p.Arg347Pro
ENST00000527786.7:c.1019G>C MANE Select	ENSP00000433488.2:p.Arg340Pro
ENST00000281428.12:c.821G>C	ENSP00000281428.8:p.Arg274Pro
ENST00000344954.10:c.440G>C	ENSP00000339627.7:p.Arg147Pro
ENST00000429175.7:c.*941G>C	ENSP00000399985.3:n.*941G>C
ENST00000527786.6:c.1019G>C	ENSP00000433488.2:p.Arg340Pro
ENST00000528790.1:n.3602G>C
ENST00000534087.3:c.920G>C	ENSP00000432950.1:p.Arg307Pro
ENST00000608303.5:c.*411G>C	ENSP00000477262.1:n.*411G>C
NM_001167681.2:c.920G>C	NP_001161153.1:p.Arg307Pro
NM_001271010.1:c.821G>C	NP_001257939.1:p.Arg274Pro
NM_001271012.1:c.440G>C	NP_001257941.1:p.Arg147Pro
NM_002017.4:c.1019G>C	NP_002008.2:p.Arg340Pro
XM_011542701.1:c.920G>C	XP_011541003.1:p.Arg307Pro
XM_011542702.1:c.893G>C	XP_011541004.1:p.Arg298Pro
XM_011542701.2:c.920G>C	XP_011541003.1:p.Arg307Pro
XM_017017405.1:c.920G>C	XP_016872894.1:p.Arg307Pro
XM_017017406.1:c.920G>C	XP_016872895.1:p.Arg307Pro
NM_002017.5:c.1019G>C MANE Select	NP_002008.2:p.Arg340Pro
NM_001167681.3:c.920G>C	NP_001161153.1:p.Arg307Pro
NM_001271010.2:c.821G>C	NP_001257939.1:p.Arg274Pro
NM_001271012.2:c.440G>C	NP_001257941.1:p.Arg147Pro