Canonical Allele Identifier: CA2175484696

Gene: FBN1

Linked Data

• dbSNP Id: rs2042842314

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48409294T>A , CM000677.2:g.48409294T>A	GRCh38
NC_000015.9:g.48701491T>A , CM000677.1:g.48701491T>A	GRCh37
NC_000015.8:g.46488783T>A	NCBI36
NG_008805.2:g.241495A>T , LRG_778:g.241495A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682170.1:n.4493A>T
ENST00000682767.1:n.3609A>T
ENST00000316623.10:c.*1696A>T MANE Select	ENSP00000325527.5:n.*1696A>T
ENST00000316623.9:c.*1696A>T	ENSP00000325527.5:n.*1696A>T
NM_000138.4:c.*1696A>T , LRG_778t1:c.*1696A>T	NP_000129.3:n.*1696A>T
NM_000138.5:c.*1696A>T MANE Select	NP_000129.3:n.*1696A>T