Canonical Allele Identifier: CA017544

Gene: FBN1

Linked Data

• ClinVar Variation Id: 163461
• ClinVar RCV Id: RCV000150695 ; RCV000529472 ; RCV001002020 ; RCV000181617 ; RCV001192914 ; RCV002415636
• dbSNP Id: rs200309328
• MyVariant Identifiers: chr15:g.48704912G>A (hg19) ; chr15:g.48412715G>A (hg38)
• ERepo: CA017544/MONDO:0007947/022
• PubMed: PMID:14695540 ; PMID:17680538 ; PMID:18435798 ; PMID:19293843 ; PMID:19839986

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48412715G>A , CM000677.2:g.48412715G>A	GRCh38
NC_000015.9:g.48704912G>A , CM000677.1:g.48704912G>A	GRCh37
NC_000015.8:g.46492204G>A	NCBI36
NG_008805.2:g.238074C>T , LRG_778:g.238074C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*888C>T	ENSP00000453958.2:n.*888C>T
ENST00000674301.2:c.*1593C>T	ENSP00000501333.2:n.*1593C>T
ENST00000682158.1:n.1461C>T
ENST00000682170.1:n.2261C>T
ENST00000682767.1:n.1377C>T
ENST00000316623.10:c.8080C>T MANE Select	ENSP00000325527.5:p.Arg2694Ter
ENST00000674301.1:c.3246C>T	ENSP00000501333.1:n.3246C>T
ENST00000316623.9:c.8080C>T	ENSP00000325527.5:p.Arg2694Ter
ENST00000559133.5:c.3449C>T
ENST00000561429.1:n.335C>T
NM_000138.4:c.8080C>T , LRG_778t1:c.8080C>T	NP_000129.3:p.Arg2694Ter
NM_000138.5:c.8080C>T MANE Select	NP_000129.3:p.Arg2694Ter