Canonical Allele Identifier: CA2573054025

Gene: FBN1

Linked Data

• ClinVar Variation Id: 1312438
• ClinVar RCV Id: RCV001755192
• dbSNP Id: rs727503055

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428342T>G , CM000677.2:g.48428342T>G	GRCh38
NC_000015.9:g.48720539T>G , CM000677.1:g.48720539T>G	GRCh37
NC_000015.8:g.46507831T>G	NCBI36
NG_008805.2:g.222447A>C , LRG_778:g.222447A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.6997+4A>C	ENSP00000453958.2:n.6997+4A>C
ENST00000674301.2:c.*448+4A>C	ENSP00000501333.2:n.*448+4A>C
ENST00000682170.1:n.610A>C
ENST00000682767.1:n.232+4A>C
ENST00000316623.10:c.6997+4A>C MANE Select	ENSP00000325527.5:n.6997+4A>C
ENST00000674301.1:c.2101+4A>C	ENSP00000501333.1:n.2101+4A>C
ENST00000316623.9:c.6997+4A>C	ENSP00000325527.5:n.6997+4A>C
ENST00000559133.5:c.2304+4A>C
ENST00000560720.1:n.288A>C
NM_000138.4:c.6997+4A>C , LRG_778t1:c.6997+4A>C	NP_000129.3:n.6997+4A>C
NM_000138.5:c.6997+4A>C MANE Select	NP_000129.3:n.6997+4A>C