Canonical Allele Identifier: CA16614646
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 406348
ClinVar RCV Id: RCV001387501
dbSNP Id: rs1060501076

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48468526C>A , CM000677.2:g.48468526C>A GRCh38
NC_000015.9:g.48760723C>A , CM000677.1:g.48760723C>A GRCh37
NC_000015.8:g.46548015C>A NCBI36
NG_008805.2:g.182263G>T , LRG_778:g.182263G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.4468G>T ENSP00000453958.2:p.Glu1490Ter
ENST00000674301.2:c.4468G>T ENSP00000501333.2:p.Glu1490Ter
ENST00000684448.1:n.3142G>T
ENST00000316623.10:c.4468G>T MANE Select ENSP00000325527.5:p.Glu1490Ter
ENST00000316623.9:c.4468G>T ENSP00000325527.5:p.Glu1490Ter
ENST00000537463.6:c.*231G>T ENSP00000440294.2:n.*231G>T
NM_000138.4:c.4468G>T , LRG_778t1:c.4468G>T NP_000129.3:p.Glu1490Ter
NM_000138.5:c.4468G>T MANE Select NP_000129.3:p.Glu1490Ter