Canonical Allele Identifier: CA304350
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 200167
dbSNP Id: rs794728315

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48441719dup , CM000677.2:g.48441719dup GRCh38
NC_000015.9:g.48733916dup , CM000677.1:g.48733916dup GRCh37
NC_000015.8:g.46521208dup NCBI36
NG_008805.2:g.209070dup , LRG_778:g.209070dup

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.6163+2dup ENSP00000453958.2:n.6163+2dup
ENST00000674301.2:c.6163+2dup ENSP00000501333.2:n.6163+2dup
ENST00000316623.10:c.6163+2dup MANE Select ENSP00000325527.5:n.6163+2dup
ENST00000674301.1:c.1162+2dup ENSP00000501333.1:n.1162+2dup
ENST00000316623.9:c.6163+2dup ENSP00000325527.5:n.6163+2dup
ENST00000537463.6:c.*1926+2dup ENSP00000440294.2:n.*1926+2dup
ENST00000559133.5:c.1470+2dup
ENST00000560820.1:n.283+2dup
NM_000138.4:c.6163+2dup , LRG_778t1:c.6163+2dup NP_000129.3:n.6163+2dup
NM_000138.5:c.6163+2dup MANE Select NP_000129.3:n.6163+2dup