Canonical Allele Identifier: CA392353769
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 926276
ClinVar RCV Id: RCV001188768
dbSNP Id: rs2043341698

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48468514G>A , CM000677.2:g.48468514G>A GRCh38
NC_000015.9:g.48760711G>A , CM000677.1:g.48760711G>A GRCh37
NC_000015.8:g.46548003G>A NCBI36
NG_008805.2:g.182275C>T , LRG_778:g.182275C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.4480C>T ENSP00000453958.2:p.Pro1494Ser
ENST00000674301.2:c.4480C>T ENSP00000501333.2:p.Pro1494Ser
ENST00000684448.1:n.3154C>T
ENST00000316623.10:c.4480C>T MANE Select ENSP00000325527.5:p.Pro1494Ser
ENST00000316623.9:c.4480C>T ENSP00000325527.5:p.Pro1494Ser
ENST00000537463.6:c.*243C>T ENSP00000440294.2:n.*243C>T
NM_000138.4:c.4480C>T , LRG_778t1:c.4480C>T NP_000129.3:p.Pro1494Ser
NM_000138.5:c.4480C>T MANE Select NP_000129.3:p.Pro1494Ser