Canonical Allele Identifier: CA392332418

Gene: FBN1

Linked Data

• ClinVar Variation Id: 549370
• ClinVar RCV Id: RCV000663904
• dbSNP Id: rs886051245
• MyVariant Identifiers: chr15:g.48722938G>T (hg19) ; chr15:g.48430741G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48430741G>T , CM000677.2:g.48430741G>T	GRCh38
NC_000015.9:g.48722938G>T , CM000677.1:g.48722938G>T	GRCh37
NC_000015.8:g.46510230G>T	NCBI36
NG_008805.2:g.220048C>A , LRG_778:g.220048C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6801C>A	ENSP00000453958.2:p.Asn2267Lys
ENST00000674301.2:c.*252C>A	ENSP00000501333.2:n.*252C>A
ENST00000682170.1:n.410C>A
ENST00000316623.10:c.6801C>A MANE Select	ENSP00000325527.5:p.Asn2267Lys
ENST00000674301.1:c.1905C>A	ENSP00000501333.1:n.1905C>A
ENST00000316623.9:c.6801C>A	ENSP00000325527.5:p.Asn2267Lys
ENST00000559133.5:c.2108C>A
ENST00000560720.1:n.88C>A
NM_000138.4:c.6801C>A , LRG_778t1:c.6801C>A	NP_000129.3:p.Asn2267Lys
NM_000138.5:c.6801C>A MANE Select	NP_000129.3:p.Asn2267Lys