Canonical Allele Identifier: CA403695791

Gene: FBN3 ELAVL1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.8072110A>G , CM000681.2:g.8072110A>G	GRCh38
NC_000019.9:g.8136994A>G , CM000681.1:g.8136994A>G	GRCh37
NC_000019.8:g.8042994A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000600128.6:c.8026T>C (FBN3) MANE Select	ENSP00000470498.1:p.Cys2676Arg
ENST00000651877.1:c.8152T>C (FBN3)	ENSP00000498507.1:p.Cys2718Arg
ENST00000270509.6:c.8026T>C (FBN3)	ENSP00000270509.2:p.Cys2676Arg
ENST00000351593.9:c.-20+77194T>C (ELAVL1)	ENSP00000264073.6:n.-20+77194T>C
ENST00000600128.5:c.8026T>C (FBN3)	ENSP00000470498.1:p.Cys2676Arg
ENST00000601739.5:c.8026T>C (FBN3)	ENSP00000472324.1:p.Cys2676Arg
NM_032447.3:c.8026T>C (FBN3)	NP_115823.3:p.Cys2676Arg
XM_011528373.1:c.8026T>C (FBN3)	XP_011526675.1:p.Cys2676Arg
NM_001321431.1:c.8026T>C (FBN3)	NP_001308360.1:p.Cys2676Arg
NM_032447.4:c.8026T>C (FBN3)	NP_115823.3:p.Cys2676Arg
XM_017027372.1:c.8026T>C (FBN3)	XP_016882861.1:p.Cys2676Arg
XM_017027373.1:c.7966T>C (FBN3)	XP_016882862.1:p.Cys2656Arg
XM_017027374.2:c.7930T>C (FBN3)	XP_016882863.1:p.Cys2644Arg
XM_017027375.2:c.7903T>C (FBN3)	XP_016882864.1:p.Cys2635Arg
XM_017027376.1:c.7897T>C (FBN3)	XP_016882865.1:p.Cys2633Arg
XM_017027377.2:c.5443T>C (FBN3)	XP_016882866.1:p.Cys1815Arg
XM_017027378.2:c.4384T>C (FBN3)	XP_016882867.1:p.Cys1462Arg
XM_017027379.1:c.8152T>C (FBN3)	XP_016882868.1:p.Cys2718Arg
NM_032447.5:c.8026T>C (FBN3) MANE Select	NP_115823.3:p.Cys2676Arg
NM_001321431.2:c.8026T>C (FBN3)	NP_001308360.1:p.Cys2676Arg