Canonical Allele Identifier: CA656135303

Gene: FBN1

Linked Data

• COSMIC: COSN5398139

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48412506C>T , CM000677.2:g.48412506C>T	GRCh38
NC_000015.9:g.48704703C>T , CM000677.1:g.48704703C>T	GRCh37
NC_000015.8:g.46491995C>T	NCBI36
NG_008805.2:g.238283G>A , LRG_778:g.238283G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1034+63G>A	ENSP00000453958.2:n.*1034+63G>A
ENST00000674301.2:c.*1739+63G>A	ENSP00000501333.2:n.*1739+63G>A
ENST00000682158.1:n.1607+63G>A
ENST00000682170.1:n.2407+63G>A
ENST00000682767.1:n.1523+63G>A
ENST00000316623.10:c.8226+63G>A MANE Select	ENSP00000325527.5:n.8226+63G>A
ENST00000674301.1:c.3392+63G>A	ENSP00000501333.1:n.3392+63G>A
ENST00000316623.9:c.8226+63G>A	ENSP00000325527.5:n.8226+63G>A
ENST00000559133.5:c.3595+63G>A
ENST00000561429.1:n.481+63G>A
NM_000138.4:c.8226+63G>A , LRG_778t1:c.8226+63G>A	NP_000129.3:n.8226+63G>A
NM_000138.5:c.8226+63G>A MANE Select	NP_000129.3:n.8226+63G>A