Canonical Allele Identifier: CA392327900

Gene: FBN1

Linked Data

• gnomAD v4: 15-48425447-A-G
• MyVariant Identifiers: chr15:g.48717644A>G (hg19) ; chr15:g.48425447A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48425447A>G , CM000677.2:g.48425447A>G	GRCh38
NC_000015.9:g.48717644A>G , CM000677.1:g.48717644A>G	GRCh37
NC_000015.8:g.46504936A>G	NCBI36
NG_008805.2:g.225342T>C , LRG_778:g.225342T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*183T>C	ENSP00000453958.2:n.*183T>C
ENST00000674301.2:c.*888T>C	ENSP00000501333.2:n.*888T>C
ENST00000682170.1:n.1556T>C
ENST00000682767.1:n.672T>C
ENST00000316623.10:c.7375T>C MANE Select	ENSP00000325527.5:p.Cys2459Arg
ENST00000674301.1:c.2541T>C	ENSP00000501333.1:n.2541T>C
ENST00000316623.9:c.7375T>C	ENSP00000325527.5:p.Cys2459Arg
ENST00000559133.5:c.2744T>C
NM_000138.4:c.7375T>C , LRG_778t1:c.7375T>C	NP_000129.3:p.Cys2459Arg
NM_000138.5:c.7375T>C MANE Select	NP_000129.3:p.Cys2459Arg