Canonical Allele Identifier: CA2575716950

Gene: FBN1

Linked Data

• gnomAD v4: 15-48428532-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428532T>A , CM000677.2:g.48428532T>A	GRCh38
NC_000015.9:g.48720729T>A , CM000677.1:g.48720729T>A	GRCh37
NC_000015.8:g.46508021T>A	NCBI36
NG_008805.2:g.222257A>T , LRG_778:g.222257A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6872-61A>T	ENSP00000453958.2:n.6872-61A>T
ENST00000674301.2:c.*323-61A>T	ENSP00000501333.2:n.*323-61A>T
ENST00000682170.1:n.481-61A>T
ENST00000682767.1:n.46A>T
ENST00000316623.10:c.6872-61A>T MANE Select	ENSP00000325527.5:n.6872-61A>T
ENST00000674301.1:c.1976-61A>T	ENSP00000501333.1:n.1976-61A>T
ENST00000316623.9:c.6872-61A>T	ENSP00000325527.5:n.6872-61A>T
ENST00000559133.5:c.2179-61A>T
ENST00000560720.1:n.159-61A>T
NM_000138.4:c.6872-61A>T , LRG_778t1:c.6872-61A>T	NP_000129.3:n.6872-61A>T
NM_000138.5:c.6872-61A>T MANE Select	NP_000129.3:n.6872-61A>T