Canonical Allele Identifier: CA2628324774

Gene: FBN1

Linked Data

• gnomAD v4: 15-48410635-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48410635T>C , CM000677.2:g.48410635T>C	GRCh38
NC_000015.9:g.48702832T>C , CM000677.1:g.48702832T>C	GRCh37
NC_000015.8:g.46490124T>C	NCBI36
NG_008805.2:g.240154A>G , LRG_778:g.240154A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1779A>G	ENSP00000453958.2:n.*1779A>G
ENST00000682158.1:n.2352A>G
ENST00000682170.1:n.3152A>G
ENST00000682767.1:n.2268A>G
ENST00000316623.10:c.*355A>G MANE Select	ENSP00000325527.5:n.*355A>G
ENST00000316623.9:c.*355A>G	ENSP00000325527.5:n.*355A>G
ENST00000559133.5:c.4340A>G
NM_000138.4:c.*355A>G , LRG_778t1:c.*355A>G	NP_000129.3:n.*355A>G
NM_000138.5:c.*355A>G MANE Select	NP_000129.3:n.*355A>G