Canonical Allele Identifier: CA392327866

Gene: FBN1

Linked Data

• ClinVar Variation Id: 519781
• ClinVar RCV Id: RCV001039062 ; RCV002313268
• dbSNP Id: rs1555394405
• MyVariant Identifiers: chr15:g.48717637T>C (hg19) ; chr15:g.48425440T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48425440T>C , CM000677.2:g.48425440T>C	GRCh38
NC_000015.9:g.48717637T>C , CM000677.1:g.48717637T>C	GRCh37
NC_000015.8:g.46504929T>C	NCBI36
NG_008805.2:g.225349A>G , LRG_778:g.225349A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*190A>G	ENSP00000453958.2:n.*190A>G
ENST00000674301.2:c.*895A>G	ENSP00000501333.2:n.*895A>G
ENST00000682170.1:n.1563A>G
ENST00000682767.1:n.679A>G
ENST00000316623.10:c.7382A>G MANE Select	ENSP00000325527.5:p.Asn2461Ser
ENST00000674301.1:c.2548A>G	ENSP00000501333.1:n.2548A>G
ENST00000316623.9:c.7382A>G	ENSP00000325527.5:p.Asn2461Ser
ENST00000559133.5:c.2751A>G
NM_000138.4:c.7382A>G , LRG_778t1:c.7382A>G	NP_000129.3:p.Asn2461Ser
NM_000138.5:c.7382A>G MANE Select	NP_000129.3:p.Asn2461Ser