Canonical Allele Identifier: CA16043492
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 373981
ClinVar RCV Id: RCV000414920
dbSNP Id: rs1057518812
MyVariant Identifiers: chr15:g.48722939T>A (hg19) chr15:g.48430742T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48430742T>A , CM000677.2:g.48430742T>A GRCh38
NC_000015.9:g.48722939T>A , CM000677.1:g.48722939T>A GRCh37
NC_000015.8:g.46510231T>A NCBI36
NG_008805.2:g.220047A>T , LRG_778:g.220047A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.6800A>T ENSP00000453958.2:p.Asn2267Ile
ENST00000674301.2:c.*251A>T ENSP00000501333.2:n.*251A>T
ENST00000682170.1:n.409A>T
ENST00000316623.10:c.6800A>T MANE Select ENSP00000325527.5:p.Asn2267Ile
ENST00000674301.1:c.1904A>T ENSP00000501333.1:n.1904A>T
ENST00000316623.9:c.6800A>T ENSP00000325527.5:p.Asn2267Ile
ENST00000559133.5:c.2107A>T
ENST00000560720.1:n.87A>T
NM_000138.4:c.6800A>T , LRG_778t1:c.6800A>T NP_000129.3:p.Asn2267Ile
NM_000138.5:c.6800A>T MANE Select NP_000129.3:p.Asn2267Ile
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