Canonical Allele Identifier: CA2628325657

Gene: FBN1

Linked Data

• gnomAD v4: 15-48415494-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48415494A>C , CM000677.2:g.48415494A>C	GRCh38
NC_000015.9:g.48707691A>C , CM000677.1:g.48707691A>C	GRCh37
NC_000015.8:g.46494983A>C	NCBI36
NG_008805.2:g.235295T>G , LRG_778:g.235295T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*859+42T>G	ENSP00000453958.2:n.*859+42T>G
ENST00000674301.2:c.*1564+42T>G	ENSP00000501333.2:n.*1564+42T>G
ENST00000682158.1:n.1432+42T>G
ENST00000682170.1:n.2232+42T>G
ENST00000682767.1:n.1348+42T>G
ENST00000316623.10:c.8051+42T>G MANE Select	ENSP00000325527.5:n.8051+42T>G
ENST00000674301.1:c.3217+42T>G	ENSP00000501333.1:n.3217+42T>G
ENST00000316623.9:c.8051+42T>G	ENSP00000325527.5:n.8051+42T>G
ENST00000559133.5:c.3420+42T>G
ENST00000561429.1:n.306+42T>G
NM_000138.4:c.8051+42T>G , LRG_778t1:c.8051+42T>G	NP_000129.3:n.8051+42T>G
NM_000138.5:c.8051+42T>G MANE Select	NP_000129.3:n.8051+42T>G