Canonical Allele Identifier: CA383238843

Gene: FLI1

Linked Data

• gnomAD v4: 11-128810644-C-A
• MyVariant Identifiers: chr11:g.128680539C>A (hg19) ; chr11:g.128810644C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128810644C>A , CM000673.2:g.128810644C>A	GRCh38
NC_000011.9:g.128680539C>A , CM000673.1:g.128680539C>A	GRCh37
NC_000011.8:g.128185749C>A	NCBI36
NG_032912.1:g.129110C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000696982.1:c.1036C>A	ENSP00000513017.1:p.Leu346Ile
ENST00000527786.7:c.1015C>A MANE Select	ENSP00000433488.2:p.Leu339Ile
ENST00000281428.12:c.817C>A	ENSP00000281428.8:p.Leu273Ile
ENST00000344954.10:c.436C>A	ENSP00000339627.7:p.Leu146Ile
ENST00000429175.7:c.*937C>A	ENSP00000399985.3:n.*937C>A
ENST00000527786.6:c.1015C>A	ENSP00000433488.2:p.Leu339Ile
ENST00000528790.1:n.3598C>A
ENST00000534087.3:c.916C>A	ENSP00000432950.1:p.Leu306Ile
ENST00000608303.5:c.*407C>A	ENSP00000477262.1:n.*407C>A
NM_001167681.2:c.916C>A	NP_001161153.1:p.Leu306Ile
NM_001271010.1:c.817C>A	NP_001257939.1:p.Leu273Ile
NM_001271012.1:c.436C>A	NP_001257941.1:p.Leu146Ile
NM_002017.4:c.1015C>A	NP_002008.2:p.Leu339Ile
XM_011542701.1:c.916C>A	XP_011541003.1:p.Leu306Ile
XM_011542702.1:c.889C>A	XP_011541004.1:p.Leu297Ile
XM_011542701.2:c.916C>A	XP_011541003.1:p.Leu306Ile
XM_017017405.1:c.916C>A	XP_016872894.1:p.Leu306Ile
XM_017017406.1:c.916C>A	XP_016872895.1:p.Leu306Ile
NM_002017.5:c.1015C>A MANE Select	NP_002008.2:p.Leu339Ile
NM_001167681.3:c.916C>A	NP_001161153.1:p.Leu306Ile
NM_001271010.2:c.817C>A	NP_001257939.1:p.Leu273Ile
NM_001271012.2:c.436C>A	NP_001257941.1:p.Leu146Ile