Canonical Allele Identifier: CA392334944

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48434647A>C , CM000677.2:g.48434647A>C	GRCh38
NC_000015.9:g.48726844A>C , CM000677.1:g.48726844A>C	GRCh37
NC_000015.8:g.46514136A>C	NCBI36
NG_008805.2:g.216142T>G , LRG_778:g.216142T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.6563T>G MANE Select	NP_000129.3:p.Phe2188Cys
ENST00000316623.10:c.6563T>G MANE Select	ENSP00000325527.5:p.Phe2188Cys
NM_000138.4:c.6563T>G , LRG_778t1:c.6563T>G	NP_000129.3:p.Phe2188Cys
ENST00000316623.9:c.6563T>G	ENSP00000325527.5:p.Phe2188Cys
ENST00000537463.6:c.*2326T>G	ENSP00000440294.2:n.*2326T>G
ENST00000559133.5:c.1870T>G
ENST00000559133.6:c.6563T>G	ENSP00000453958.2:p.Phe2188Cys
ENST00000674301.1:c.1562T>G	ENSP00000501333.1:p.Phe521Cys
ENST00000674301.2:c.6563T>G	ENSP00000501333.2:p.Phe2188Cys
ENST00000682170.1:n.172T>G