Canonical Allele Identifier: CA2628329548

Gene: FBN1

Linked Data

• gnomAD v4: 15-48421789-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48421789G>T , CM000677.2:g.48421789G>T	GRCh38
NC_000015.9:g.48713986G>T , CM000677.1:g.48713986G>T	GRCh37
NC_000015.8:g.46501278G>T	NCBI36
NG_008805.2:g.229000C>A , LRG_778:g.229000C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*379-103C>A	ENSP00000453958.2:n.*379-103C>A
ENST00000674301.2:c.*1084-103C>A	ENSP00000501333.2:n.*1084-103C>A
ENST00000682170.1:n.1752-103C>A
ENST00000682767.1:n.868-103C>A
ENST00000316623.10:c.7571-103C>A MANE Select	ENSP00000325527.5:n.7571-103C>A
ENST00000674301.1:c.2737-103C>A	ENSP00000501333.1:n.2737-103C>A
ENST00000316623.9:c.7571-103C>A	ENSP00000325527.5:n.7571-103C>A
ENST00000559133.5:c.2940-103C>A
NM_000138.4:c.7571-103C>A , LRG_778t1:c.7571-103C>A	NP_000129.3:n.7571-103C>A
NM_000138.5:c.7571-103C>A MANE Select	NP_000129.3:n.7571-103C>A