Canonical Allele Identifier: CA392318973

Gene: FBN1

Linked Data

• gnomAD v4: 15-48411151-T-C
• MyVariant Identifiers: chr15:g.48703348T>C (hg19) ; chr15:g.48411151T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411151T>C , CM000677.2:g.48411151T>C	GRCh38
NC_000015.9:g.48703348T>C , CM000677.1:g.48703348T>C	GRCh37
NC_000015.8:g.46490640T>C	NCBI36
NG_008805.2:g.239638A>G , LRG_778:g.239638A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1263A>G	ENSP00000453958.2:n.*1263A>G
ENST00000674301.2:c.*1968A>G	ENSP00000501333.2:n.*1968A>G
ENST00000682158.1:n.1836A>G
ENST00000682170.1:n.2636A>G
ENST00000682767.1:n.1752A>G
ENST00000316623.10:c.8455A>G MANE Select	ENSP00000325527.5:p.Lys2819Glu
ENST00000674301.1:c.3621A>G	ENSP00000501333.1:n.3621A>G
ENST00000316623.9:c.8455A>G	ENSP00000325527.5:p.Lys2819Glu
ENST00000559133.5:c.3824A>G
NM_000138.4:c.8455A>G , LRG_778t1:c.8455A>G	NP_000129.3:p.Lys2819Glu
NM_000138.5:c.8455A>G MANE Select	NP_000129.3:p.Lys2819Glu