Canonical Allele Identifier: CA392325227

Gene: FBN1

Linked Data

• ClinVar Variation Id: 2042296
• ClinVar RCV Id: RCV002917371
• MyVariant Identifiers: chr15:g.48779358T>A (hg19) ; chr15:g.48487161T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48487161T>A , CM000677.2:g.48487161T>A	GRCh38
NC_000015.9:g.48779358T>A , CM000677.1:g.48779358T>A	GRCh37
NC_000015.8:g.46566650T>A	NCBI36
NG_008805.2:g.163628A>T , LRG_778:g.163628A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.3503A>T	ENSP00000453958.2:p.Asn1168Ile
ENST00000674301.2:c.3503A>T	ENSP00000501333.2:p.Asn1168Ile
ENST00000684448.1:n.2177A>T
ENST00000316623.10:c.3503A>T MANE Select	ENSP00000325527.5:p.Asn1168Ile
ENST00000316623.9:c.3503A>T	ENSP00000325527.5:p.Asn1168Ile
ENST00000537463.6:c.637-12511A>T	ENSP00000440294.2:n.637-12511A>T
NM_000138.4:c.3503A>T , LRG_778t1:c.3503A>T	NP_000129.3:p.Asn1168Ile
NM_000138.5:c.3503A>T MANE Select	NP_000129.3:p.Asn1168Ile