Canonical Allele Identifier: CA2730790614

Gene: FBN1

Linked Data

• dbSNP Id: rs2140787323

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48644595G>A , CM000677.2:g.48644595G>A	GRCh38
NC_000015.9:g.48936792G>A , CM000677.1:g.48936792G>A	GRCh37
NC_000015.8:g.46724084G>A	NCBI36
NG_008805.2:g.6194C>T , LRG_778:g.6194C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.164+11C>T	ENSP00000453958.2:n.164+11C>T
ENST00000674301.2:c.164+11C>T	ENSP00000501333.2:n.164+11C>T
ENST00000316623.10:c.164+11C>T MANE Select	ENSP00000325527.5:n.164+11C>T
ENST00000316623.9:c.164+11C>T	ENSP00000325527.5:n.164+11C>T
ENST00000537463.6:c.164+11C>T	ENSP00000440294.2:n.164+11C>T
ENST00000558230.1:n.227+11C>T
ENST00000560355.1:c.*7C>T	ENSP00000453901.1:n.*7C>T
NM_000138.4:c.164+11C>T , LRG_778t1:c.164+11C>T	NP_000129.3:n.164+11C>T
NM_000138.5:c.164+11C>T MANE Select	NP_000129.3:n.164+11C>T