Canonical Allele Identifier: CA392318651

Gene: FBN1

Linked Data

• gnomAD v4: 15-48411076-G-T
• MyVariant Identifiers: chr15:g.48703273G>T (hg19) ; chr15:g.48411076G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411076G>T , CM000677.2:g.48411076G>T	GRCh38
NC_000015.9:g.48703273G>T , CM000677.1:g.48703273G>T	GRCh37
NC_000015.8:g.46490565G>T	NCBI36
NG_008805.2:g.239713C>A , LRG_778:g.239713C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1338C>A	ENSP00000453958.2:n.*1338C>A
ENST00000682158.1:n.1911C>A
ENST00000682170.1:n.2711C>A
ENST00000682767.1:n.1827C>A
ENST00000316623.10:c.8530C>A MANE Select	ENSP00000325527.5:p.Gln2844Lys
ENST00000316623.9:c.8530C>A	ENSP00000325527.5:p.Gln2844Lys
ENST00000559133.5:c.3899C>A
NM_000138.4:c.8530C>A , LRG_778t1:c.8530C>A	NP_000129.3:p.Gln2844Lys
NM_000138.5:c.8530C>A MANE Select	NP_000129.3:p.Gln2844Lys