Canonical Allele Identifier: CA014867

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48472665A>G , CM000677.2:g.48472665A>G	GRCh38
NC_000015.9:g.48764862A>G , CM000677.1:g.48764862A>G	GRCh37
NC_000015.8:g.46552154A>G	NCBI36
NG_008805.2:g.178124T>C , LRG_778:g.178124T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.4222T>C MANE Select	NP_000129.3:p.Cys1408Arg
ENST00000316623.10:c.4222T>C MANE Select	ENSP00000325527.5:p.Cys1408Arg
NM_000138.4:c.4222T>C , LRG_778t1:c.4222T>C	NP_000129.3:p.Cys1408Arg
ENST00000316623.9:c.4222T>C	ENSP00000325527.5:p.Cys1408Arg
ENST00000537463.6:c.894T>C	ENSP00000440294.2:p.Ser298=
ENST00000559133.6:c.4222T>C	ENSP00000453958.2:p.Cys1408Arg
ENST00000674301.2:c.4222T>C	ENSP00000501333.2:p.Cys1408Arg
ENST00000683268.1:n.189T>C
ENST00000684448.1:n.2896T>C