Canonical Allele Identifier: CA6357281

Gene: FLI1

Linked Data

• ClinVar Variation Id: 759151
• ClinVar RCV Id: RCV000936934
• dbSNP Id: rs766821081
• ExAC: 11:128680394 G / C
• gnomAD v2: 11-128680394-G-C
• gnomAD v3: 11-128810499-G-C
• gnomAD v4: 11-128810499-G-C
• MyVariant Identifiers: chr11:g.128680394G>C (hg19) ; chr11:g.128810499G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128810499G>C , CM000673.2:g.128810499G>C	GRCh38
NC_000011.9:g.128680394G>C , CM000673.1:g.128680394G>C	GRCh37
NC_000011.8:g.128185604G>C	NCBI36
NG_032912.1:g.128965G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696982.1:c.891G>C	ENSP00000513017.1:p.Leu297=
ENST00000527786.7:c.870G>C MANE Select	ENSP00000433488.2:p.Leu290=
ENST00000281428.12:c.672G>C	ENSP00000281428.8:p.Leu224=
ENST00000344954.10:c.291G>C	ENSP00000339627.7:p.Leu97=
ENST00000429175.7:c.*792G>C	ENSP00000399985.3:n.*792G>C
ENST00000527786.6:c.870G>C	ENSP00000433488.2:p.Leu290=
ENST00000528790.1:n.3453G>C
ENST00000534087.3:c.771G>C	ENSP00000432950.1:p.Leu257=
ENST00000608303.5:c.*262G>C	ENSP00000477262.1:n.*262G>C
NM_001167681.2:c.771G>C	NP_001161153.1:p.Leu257=
NM_001271010.1:c.672G>C	NP_001257939.1:p.Leu224=
NM_001271012.1:c.291G>C	NP_001257941.1:p.Leu97=
NM_002017.4:c.870G>C	NP_002008.2:p.Leu290=
XM_011542701.1:c.771G>C	XP_011541003.1:p.Leu257=
XM_011542702.1:c.744G>C	XP_011541004.1:p.Leu248=
XM_011542701.2:c.771G>C	XP_011541003.1:p.Leu257=
XM_017017405.1:c.771G>C	XP_016872894.1:p.Leu257=
XM_017017406.1:c.771G>C	XP_016872895.1:p.Leu257=
NM_002017.5:c.870G>C MANE Select	NP_002008.2:p.Leu290=
NM_001167681.3:c.771G>C	NP_001161153.1:p.Leu257=
NM_001271010.2:c.672G>C	NP_001257939.1:p.Leu224=
NM_001271012.2:c.291G>C	NP_001257941.1:p.Leu97=