Canonical Allele Identifier: CA2175465022

Gene: FBN1

Linked Data

• dbSNP Id: rs1194136144

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48422212G>C , CM000677.2:g.48422212G>C	GRCh38
NC_000015.9:g.48714409G>C , CM000677.1:g.48714409G>C	GRCh37
NC_000015.8:g.46501701G>C	NCBI36
NG_008805.2:g.228577C>G , LRG_778:g.228577C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*262-144C>G	ENSP00000453958.2:n.*262-144C>G
ENST00000674301.2:c.*967-144C>G	ENSP00000501333.2:n.*967-144C>G
ENST00000682170.1:n.1635-144C>G
ENST00000682767.1:n.751-144C>G
ENST00000316623.10:c.7454-144C>G MANE Select	ENSP00000325527.5:n.7454-144C>G
ENST00000674301.1:c.2620-144C>G	ENSP00000501333.1:n.2620-144C>G
ENST00000316623.9:c.7454-144C>G	ENSP00000325527.5:n.7454-144C>G
ENST00000559133.5:c.2823-144C>G
NM_000138.4:c.7454-144C>G , LRG_778t1:c.7454-144C>G	NP_000129.3:n.7454-144C>G
NM_000138.5:c.7454-144C>G MANE Select	NP_000129.3:n.7454-144C>G