Canonical Allele Identifier: CA2628329544

Gene: FBN1

Linked Data

• gnomAD v4: 15-48421786-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48421786T>G , CM000677.2:g.48421786T>G	GRCh38
NC_000015.9:g.48713983T>G , CM000677.1:g.48713983T>G	GRCh37
NC_000015.8:g.46501275T>G	NCBI36
NG_008805.2:g.229003A>C , LRG_778:g.229003A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*379-100A>C	ENSP00000453958.2:n.*379-100A>C
ENST00000674301.2:c.*1084-100A>C	ENSP00000501333.2:n.*1084-100A>C
ENST00000682170.1:n.1752-100A>C
ENST00000682767.1:n.868-100A>C
ENST00000316623.10:c.7571-100A>C MANE Select	ENSP00000325527.5:n.7571-100A>C
ENST00000674301.1:c.2737-100A>C	ENSP00000501333.1:n.2737-100A>C
ENST00000316623.9:c.7571-100A>C	ENSP00000325527.5:n.7571-100A>C
ENST00000559133.5:c.2940-100A>C
NM_000138.4:c.7571-100A>C , LRG_778t1:c.7571-100A>C	NP_000129.3:n.7571-100A>C
NM_000138.5:c.7571-100A>C MANE Select	NP_000129.3:n.7571-100A>C