Canonical Allele Identifier: CA392320265
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2925557
ClinVar RCV Id: RCV003783651
dbSNP Id: rs1254582017
gnomAD v2: 15-48766523-C-T
COSMIC: COSM701174
MyVariant Identifiers: chr15:g.48766523C>T (hg19) chr15:g.48474326C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48474326C>T , CM000677.2:g.48474326C>T GRCh38
NC_000015.9:g.48766523C>T , CM000677.1:g.48766523C>T GRCh37
NC_000015.8:g.46553815C>T NCBI36
NG_008805.2:g.176463G>A , LRG_778:g.176463G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.4139G>A ENSP00000453958.2:p.Cys1380Tyr
ENST00000674301.2:c.4139G>A ENSP00000501333.2:p.Cys1380Tyr
ENST00000684448.1:n.2813G>A
ENST00000316623.10:c.4139G>A MANE Select ENSP00000325527.5:p.Cys1380Tyr
ENST00000316623.9:c.4139G>A ENSP00000325527.5:p.Cys1380Tyr
ENST00000537463.6:c.811G>A ENSP00000440294.2:p.Ala271Thr
NM_000138.4:c.4139G>A , LRG_778t1:c.4139G>A NP_000129.3:p.Cys1380Tyr
NM_000138.5:c.4139G>A MANE Select NP_000129.3:p.Cys1380Tyr
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