Canonical Allele Identifier: CA383238423

Gene: FLI1

Linked Data

• ClinVar Variation Id: 2828283
• ClinVar RCV Id: RCV003693853
• gnomAD v4: 11-128810463-C-A
• MyVariant Identifiers: chr11:g.128680358C>A (hg19) ; chr11:g.128810463C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128810463C>A , CM000673.2:g.128810463C>A	GRCh38
NC_000011.9:g.128680358C>A , CM000673.1:g.128680358C>A	GRCh37
NC_000011.8:g.128185568C>A	NCBI36
NG_032912.1:g.128929C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696982.1:c.855C>A	ENSP00000513017.1:p.Ser285Arg
ENST00000527786.7:c.834C>A MANE Select	ENSP00000433488.2:p.Ser278Arg
ENST00000281428.12:c.636C>A	ENSP00000281428.8:p.Ser212Arg
ENST00000344954.10:c.255C>A	ENSP00000339627.7:p.Ser85Arg
ENST00000429175.7:c.*756C>A	ENSP00000399985.3:n.*756C>A
ENST00000527786.6:c.834C>A	ENSP00000433488.2:p.Ser278Arg
ENST00000528790.1:n.3417C>A
ENST00000534087.3:c.735C>A	ENSP00000432950.1:p.Ser245Arg
ENST00000608303.5:c.*226C>A	ENSP00000477262.1:n.*226C>A
NM_001167681.2:c.735C>A	NP_001161153.1:p.Ser245Arg
NM_001271010.1:c.636C>A	NP_001257939.1:p.Ser212Arg
NM_001271012.1:c.255C>A	NP_001257941.1:p.Ser85Arg
NM_002017.4:c.834C>A	NP_002008.2:p.Ser278Arg
XM_011542701.1:c.735C>A	XP_011541003.1:p.Ser245Arg
XM_011542702.1:c.708C>A	XP_011541004.1:p.Ser236Arg
XM_011542701.2:c.735C>A	XP_011541003.1:p.Ser245Arg
XM_017017405.1:c.735C>A	XP_016872894.1:p.Ser245Arg
XM_017017406.1:c.735C>A	XP_016872895.1:p.Ser245Arg
NM_002017.5:c.834C>A MANE Select	NP_002008.2:p.Ser278Arg
NM_001167681.3:c.735C>A	NP_001161153.1:p.Ser245Arg
NM_001271010.2:c.636C>A	NP_001257939.1:p.Ser212Arg
NM_001271012.2:c.255C>A	NP_001257941.1:p.Ser85Arg