Canonical Allele Identifier: CA015808

Gene: FBN1

Linked Data

• ClinVar Variation Id: 42383
• ClinVar RCV Id: RCV000035225 ; RCV001224439 ; RCV002345270
• dbSNP Id: rs397515821
• MyVariant Identifiers: chr15:g.48744867G>A (hg19) ; chr15:g.48452670G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48452670G>A , CM000677.2:g.48452670G>A	GRCh38
NC_000015.9:g.48744867G>A , CM000677.1:g.48744867G>A	GRCh37
NC_000015.8:g.46532159G>A	NCBI36
NG_008805.2:g.198119C>T , LRG_778:g.198119C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5437C>T	ENSP00000453958.2:p.Gln1813Ter
ENST00000674301.2:c.5437C>T	ENSP00000501333.2:p.Gln1813Ter
ENST00000684448.1:n.4111C>T
ENST00000316623.10:c.5437C>T MANE Select	ENSP00000325527.5:p.Gln1813Ter
ENST00000674301.1:c.436C>T	ENSP00000501333.1:p.Gln146Ter
ENST00000316623.9:c.5437C>T	ENSP00000325527.5:p.Gln1813Ter
ENST00000537463.6:c.*1200C>T	ENSP00000440294.2:n.*1200C>T
ENST00000559133.5:c.744C>T
NM_000138.4:c.5437C>T , LRG_778t1:c.5437C>T	NP_000129.3:p.Gln1813Ter
NM_000138.5:c.5437C>T MANE Select	NP_000129.3:p.Gln1813Ter