Canonical Allele Identifier: CA269533722

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48446741T>C , CM000677.2:g.48446741T>C	GRCh38
NC_000015.9:g.48738938T>C , CM000677.1:g.48738938T>C	GRCh37
NC_000015.8:g.46526230T>C	NCBI36
NG_008805.2:g.204048A>G , LRG_778:g.204048A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.5753A>G MANE Select	NP_000129.3:p.His1918Arg
ENST00000316623.10:c.5753A>G MANE Select	ENSP00000325527.5:p.His1918Arg
NM_000138.4:c.5753A>G , LRG_778t1:c.5753A>G	NP_000129.3:p.His1918Arg
ENST00000316623.9:c.5753A>G	ENSP00000325527.5:p.His1918Arg
ENST00000537463.6:c.*1516A>G	ENSP00000440294.2:n.*1516A>G
ENST00000559133.5:c.1060A>G
ENST00000559133.6:c.5753A>G	ENSP00000453958.2:p.His1918Arg
ENST00000674301.1:c.752A>G	ENSP00000501333.1:p.His251Arg
ENST00000674301.2:c.5753A>G	ENSP00000501333.2:p.His1918Arg
ENST00000684448.1:n.4427A>G