Canonical Allele Identifier: CA969579677

Gene: FBN1

Linked Data

• dbSNP Id: rs2042871256
• gnomAD v3: 15-48412488-A-G
• gnomAD v4: 15-48412488-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48412488A>G , CM000677.2:g.48412488A>G	GRCh38
NC_000015.9:g.48704685A>G , CM000677.1:g.48704685A>G	GRCh37
NC_000015.8:g.46491977A>G	NCBI36
NG_008805.2:g.238301T>C , LRG_778:g.238301T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*1034+81T>C	ENSP00000453958.2:n.*1034+81T>C
ENST00000674301.2:c.*1739+81T>C	ENSP00000501333.2:n.*1739+81T>C
ENST00000682158.1:n.1607+81T>C
ENST00000682170.1:n.2407+81T>C
ENST00000682767.1:n.1523+81T>C
ENST00000316623.10:c.8226+81T>C MANE Select	ENSP00000325527.5:n.8226+81T>C
ENST00000674301.1:c.3392+81T>C	ENSP00000501333.1:n.3392+81T>C
ENST00000316623.9:c.8226+81T>C	ENSP00000325527.5:n.8226+81T>C
ENST00000559133.5:c.3595+81T>C
ENST00000561429.1:n.481+81T>C
NM_000138.4:c.8226+81T>C , LRG_778t1:c.8226+81T>C	NP_000129.3:n.8226+81T>C
NM_000138.5:c.8226+81T>C MANE Select	NP_000129.3:n.8226+81T>C