Canonical Allele Identifier: CA2628324450

Gene: FBN1

Linked Data

• gnomAD v4: 15-48409664-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48409664G>A , CM000677.2:g.48409664G>A	GRCh38
NC_000015.9:g.48701861G>A , CM000677.1:g.48701861G>A	GRCh37
NC_000015.8:g.46489153G>A	NCBI36
NG_008805.2:g.241125C>T , LRG_778:g.241125C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682170.1:n.4123C>T
ENST00000682767.1:n.3239C>T
ENST00000316623.10:c.*1326C>T MANE Select	ENSP00000325527.5:n.*1326C>T
ENST00000316623.9:c.*1326C>T	ENSP00000325527.5:n.*1326C>T
NM_000138.4:c.*1326C>T , LRG_778t1:c.*1326C>T	NP_000129.3:n.*1326C>T
NM_000138.5:c.*1326C>T MANE Select	NP_000129.3:n.*1326C>T