Canonical Allele Identifier: CA392320704

Gene: FBN1

Linked Data

• dbSNP Id: rs2042871947
• MyVariant Identifiers: chr15:g.48704779G>A (hg19) ; chr15:g.48412582G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48412582G>A , CM000677.2:g.48412582G>A	GRCh38
NC_000015.9:g.48704779G>A , CM000677.1:g.48704779G>A	GRCh37
NC_000015.8:g.46492071G>A	NCBI36
NG_008805.2:g.238207C>T , LRG_778:g.238207C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1021C>T	ENSP00000453958.2:n.*1021C>T
ENST00000674301.2:c.*1726C>T	ENSP00000501333.2:n.*1726C>T
ENST00000682158.1:n.1594C>T
ENST00000682170.1:n.2394C>T
ENST00000682767.1:n.1510C>T
ENST00000316623.10:c.8213C>T MANE Select	ENSP00000325527.5:p.Ala2738Val
ENST00000674301.1:c.3379C>T	ENSP00000501333.1:n.3379C>T
ENST00000316623.9:c.8213C>T	ENSP00000325527.5:p.Ala2738Val
ENST00000559133.5:c.3582C>T
ENST00000561429.1:n.468C>T
NM_000138.4:c.8213C>T , LRG_778t1:c.8213C>T	NP_000129.3:p.Ala2738Val
NM_000138.5:c.8213C>T MANE Select	NP_000129.3:p.Ala2738Val