Canonical Allele Identifier: CA2804070248

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48409550A>G , CM000677.2:g.48409550A>G	GRCh38
NC_000015.9:g.48701747A>G , CM000677.1:g.48701747A>G	GRCh37
NC_000015.8:g.46489039A>G	NCBI36
NG_008805.2:g.241239T>C , LRG_778:g.241239T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682170.1:n.4237T>C
ENST00000682767.1:n.3353T>C
ENST00000316623.10:c.*1440T>C MANE Select	ENSP00000325527.5:n.*1440T>C
ENST00000316623.9:c.*1440T>C	ENSP00000325527.5:n.*1440T>C
NM_000138.4:c.*1440T>C , LRG_778t1:c.*1440T>C	NP_000129.3:n.*1440T>C
NM_000138.5:c.*1440T>C MANE Select	NP_000129.3:n.*1440T>C