Canonical Allele Identifier: CA392326130

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48422045G>A , CM000677.2:g.48422045G>A	GRCh38
NC_000015.9:g.48714242G>A , CM000677.1:g.48714242G>A	GRCh37
NC_000015.8:g.46501534G>A	NCBI36
NG_008805.2:g.228744C>T , LRG_778:g.228744C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.7477C>T MANE Select	NP_000129.3:p.Gln2493Ter
ENST00000316623.10:c.7477C>T MANE Select	ENSP00000325527.5:p.Gln2493Ter
NM_000138.4:c.7477C>T , LRG_778t1:c.7477C>T	NP_000129.3:p.Gln2493Ter
ENST00000316623.9:c.7477C>T	ENSP00000325527.5:p.Gln2493Ter
ENST00000559133.5:c.2846C>T
ENST00000559133.6:c.*285C>T	ENSP00000453958.2:n.*285C>T
ENST00000674301.1:c.2643C>T	ENSP00000501333.1:n.2643C>T
ENST00000674301.2:c.*990C>T	ENSP00000501333.2:n.*990C>T
ENST00000682170.1:n.1658C>T
ENST00000682767.1:n.774C>T