Canonical Allele Identifier: CA016326

Gene: FBN1

Linked Data

• ClinVar Variation Id: 42398
• ClinVar RCV Id: RCV000035240
• dbSNP Id: rs397515831
• MyVariant Identifiers: chr15:g.48729989C>A (hg19) ; chr15:g.48437792C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48437792C>A , CM000677.2:g.48437792C>A	GRCh38
NC_000015.9:g.48729989C>A , CM000677.1:g.48729989C>A	GRCh37
NC_000015.8:g.46517281C>A	NCBI36
NG_008805.2:g.212997G>T , LRG_778:g.212997G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6289G>T	ENSP00000453958.2:p.Glu2097Ter
ENST00000674301.2:c.6289G>T	ENSP00000501333.2:p.Glu2097Ter
ENST00000316623.10:c.6289G>T MANE Select	ENSP00000325527.5:p.Glu2097Ter
ENST00000674301.1:c.1288G>T	ENSP00000501333.1:p.Glu430Ter
ENST00000316623.9:c.6289G>T	ENSP00000325527.5:p.Glu2097Ter
ENST00000537463.6:c.*2052G>T	ENSP00000440294.2:n.*2052G>T
ENST00000559133.5:c.1596G>T
ENST00000560820.1:n.409G>T
NM_000138.4:c.6289G>T , LRG_778t1:c.6289G>T	NP_000129.3:p.Glu2097Ter
NM_000138.5:c.6289G>T MANE Select	NP_000129.3:p.Glu2097Ter