Canonical Allele Identifier: CA013258

Gene: FBN1

Linked Data

• ClinVar Variation Id: 200001
• ClinVar RCV Id: RCV000181465 ; RCV000616479 ; RCV000663562 ; RCV000807820 ; RCV001001395 ; RCV000763356 ; RCV000780242 ; RCV001198804
• dbSNP Id: rs794728195
• gnomAD v4: 15-48495155-G-A
• COSMIC: COSM1478172
• MyVariant Identifiers: chr15:g.48787352G>A (hg19) ; chr15:g.48495155G>A (hg38)
• PubMed: PMID:15241795 ; PMID:16756980 ; PMID:17627385 ; PMID:17657824 ; PMID:20564469

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48495155G>A , CM000677.2:g.48495155G>A	GRCh38
NC_000015.9:g.48787352G>A , CM000677.1:g.48787352G>A	GRCh37
NC_000015.8:g.46574644G>A	NCBI36
NG_008805.2:g.155634C>T , LRG_778:g.155634C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.2645C>T	ENSP00000453958.2:p.Ala882Val
ENST00000674301.2:c.2645C>T	ENSP00000501333.2:p.Ala882Val
ENST00000684448.1:n.1319C>T
ENST00000316623.10:c.2645C>T MANE Select	ENSP00000325527.5:p.Ala882Val
ENST00000316623.9:c.2645C>T	ENSP00000325527.5:p.Ala882Val
ENST00000537463.6:c.637-20505C>T	ENSP00000440294.2:n.637-20505C>T
NM_000138.4:c.2645C>T , LRG_778t1:c.2645C>T	NP_000129.3:p.Ala882Val
NM_000138.5:c.2645C>T MANE Select	NP_000129.3:p.Ala882Val