Canonical Allele Identifier: CA383238564

Gene: FLI1

Linked Data

• gnomAD v4: 11-128810525-G-T
• MyVariant Identifiers: chr11:g.128680420G>T (hg19) ; chr11:g.128810525G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128810525G>T , CM000673.2:g.128810525G>T	GRCh38
NC_000011.9:g.128680420G>T , CM000673.1:g.128680420G>T	GRCh37
NC_000011.8:g.128185630G>T	NCBI36
NG_032912.1:g.128991G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696982.1:c.917G>T	ENSP00000513017.1:p.Cys306Phe
ENST00000527786.7:c.896G>T MANE Select	ENSP00000433488.2:p.Cys299Phe
ENST00000281428.12:c.698G>T	ENSP00000281428.8:p.Cys233Phe
ENST00000344954.10:c.317G>T	ENSP00000339627.7:p.Cys106Phe
ENST00000429175.7:c.*818G>T	ENSP00000399985.3:n.*818G>T
ENST00000527786.6:c.896G>T	ENSP00000433488.2:p.Cys299Phe
ENST00000528790.1:n.3479G>T
ENST00000534087.3:c.797G>T	ENSP00000432950.1:p.Cys266Phe
ENST00000608303.5:c.*288G>T	ENSP00000477262.1:n.*288G>T
NM_001167681.2:c.797G>T	NP_001161153.1:p.Cys266Phe
NM_001271010.1:c.698G>T	NP_001257939.1:p.Cys233Phe
NM_001271012.1:c.317G>T	NP_001257941.1:p.Cys106Phe
NM_002017.4:c.896G>T	NP_002008.2:p.Cys299Phe
XM_011542701.1:c.797G>T	XP_011541003.1:p.Cys266Phe
XM_011542702.1:c.770G>T	XP_011541004.1:p.Cys257Phe
XM_011542701.2:c.797G>T	XP_011541003.1:p.Cys266Phe
XM_017017405.1:c.797G>T	XP_016872894.1:p.Cys266Phe
XM_017017406.1:c.797G>T	XP_016872895.1:p.Cys266Phe
NM_002017.5:c.896G>T MANE Select	NP_002008.2:p.Cys299Phe
NM_001167681.3:c.797G>T	NP_001161153.1:p.Cys266Phe
NM_001271010.2:c.698G>T	NP_001257939.1:p.Cys233Phe
NM_001271012.2:c.317G>T	NP_001257941.1:p.Cys106Phe