Canonical Allele Identifier: CA392338394

Gene: FBN1

Linked Data

• ClinVar Variation Id: 439704
• ClinVar RCV Id: RCV000505946 ; RCV001865657
• dbSNP Id: rs1555395475
• MyVariant Identifiers: chr15:g.48733994G>T (hg19) ; chr15:g.48441797G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48441797G>T , CM000677.2:g.48441797G>T	GRCh38
NC_000015.9:g.48733994G>T , CM000677.1:g.48733994G>T	GRCh37
NC_000015.8:g.46521286G>T	NCBI36
NG_008805.2:g.208992C>A , LRG_778:g.208992C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6087C>A	ENSP00000453958.2:p.Cys2029Ter
ENST00000674301.2:c.6087C>A	ENSP00000501333.2:p.Cys2029Ter
ENST00000316623.10:c.6087C>A MANE Select	ENSP00000325527.5:p.Cys2029Ter
ENST00000674301.1:c.1086C>A	ENSP00000501333.1:p.Cys362Ter
ENST00000316623.9:c.6087C>A	ENSP00000325527.5:p.Cys2029Ter
ENST00000537463.6:c.*1850C>A	ENSP00000440294.2:n.*1850C>A
ENST00000559133.5:c.1394C>A
ENST00000560820.1:n.207C>A
NM_000138.4:c.6087C>A , LRG_778t1:c.6087C>A	NP_000129.3:p.Cys2029Ter
NM_000138.5:c.6087C>A MANE Select	NP_000129.3:p.Cys2029Ter