Canonical Allele Identifier: CA392320244
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 547318
ClinVar RCV Id: RCV000659539
dbSNP Id: rs1555397661
MyVariant Identifiers: chr15:g.48766517T>A (hg19) chr15:g.48474320T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48474320T>A , CM000677.2:g.48474320T>A GRCh38
NC_000015.9:g.48766517T>A , CM000677.1:g.48766517T>A GRCh37
NC_000015.8:g.46553809T>A NCBI36
NG_008805.2:g.176469A>T , LRG_778:g.176469A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.4145A>T ENSP00000453958.2:p.Asn1382Ile
ENST00000674301.2:c.4145A>T ENSP00000501333.2:p.Asn1382Ile
ENST00000684448.1:n.2819A>T
ENST00000316623.10:c.4145A>T MANE Select ENSP00000325527.5:p.Asn1382Ile
ENST00000316623.9:c.4145A>T ENSP00000325527.5:p.Asn1382Ile
ENST00000537463.6:c.817A>T ENSP00000440294.2:p.Ile273Leu
NM_000138.4:c.4145A>T , LRG_778t1:c.4145A>T NP_000129.3:p.Asn1382Ile
NM_000138.5:c.4145A>T MANE Select NP_000129.3:p.Asn1382Ile
Search 100 bp 5'
Search 100 bp 3'