Canonical Allele Identifier: CA017303

Gene: FBN1

Linked Data

• ClinVar Variation Id: 200119
• ClinVar RCV Id: RCV000549612
• dbSNP Id: rs794728276
• MyVariant Identifiers: chr15:g.48713830G>A (hg19) ; chr15:g.48421633G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48421633G>A , CM000677.2:g.48421633G>A	GRCh38
NC_000015.9:g.48713830G>A , CM000677.1:g.48713830G>A	GRCh37
NC_000015.8:g.46501122G>A	NCBI36
NG_008805.2:g.229156C>T , LRG_778:g.229156C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*432C>T	ENSP00000453958.2:n.*432C>T
ENST00000674301.2:c.*1137C>T	ENSP00000501333.2:n.*1137C>T
ENST00000682170.1:n.1805C>T
ENST00000682767.1:n.921C>T
ENST00000316623.10:c.7624C>T MANE Select	ENSP00000325527.5:p.Gln2542Ter
ENST00000674301.1:c.2790C>T	ENSP00000501333.1:n.2790C>T
ENST00000316623.9:c.7624C>T	ENSP00000325527.5:p.Gln2542Ter
ENST00000559133.5:c.2993C>T
NM_000138.4:c.7624C>T , LRG_778t1:c.7624C>T	NP_000129.3:p.Gln2542Ter
NM_000138.5:c.7624C>T MANE Select	NP_000129.3:p.Gln2542Ter