Canonical Allele Identifier: CA392324780

Gene: FBN1

Linked Data

• ClinVar Variation Id: 495650
• ClinVar RCV Id: RCV000589865
• dbSNP Id: rs765942432
• MyVariant Identifiers: chr15:g.48712971G>A (hg19) ; chr15:g.48420774G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48420774G>A , CM000677.2:g.48420774G>A	GRCh38
NC_000015.9:g.48712971G>A , CM000677.1:g.48712971G>A	GRCh37
NC_000015.8:g.46500263G>A	NCBI36
NG_008805.2:g.230015C>T , LRG_778:g.230015C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*540C>T	ENSP00000453958.2:n.*540C>T
ENST00000674301.2:c.*1245C>T	ENSP00000501333.2:n.*1245C>T
ENST00000682170.1:n.1913C>T
ENST00000682767.1:n.1029C>T
ENST00000316623.10:c.7732C>T MANE Select	ENSP00000325527.5:p.Gln2578Ter
ENST00000674301.1:c.2898C>T	ENSP00000501333.1:n.2898C>T
ENST00000316623.9:c.7732C>T	ENSP00000325527.5:p.Gln2578Ter
ENST00000559133.5:c.3101C>T
NM_000138.4:c.7732C>T , LRG_778t1:c.7732C>T	NP_000129.3:p.Gln2578Ter
NM_000138.5:c.7732C>T MANE Select	NP_000129.3:p.Gln2578Ter