Canonical Allele Identifier: CA017442

Gene: FBN1

Linked Data

• ClinVar Variation Id: 42435
• ClinVar RCV Id: RCV000035280 ; RCV000244537
• dbSNP Id: rs397515858
• gnomAD v2: 15-48707903-C-T
• gnomAD v4: 15-48415706-C-T
• MyVariant Identifiers: chr15:g.48707903C>T (hg19) ; chr15:g.48415706C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48415706C>T , CM000677.2:g.48415706C>T	GRCh38
NC_000015.9:g.48707903C>T , CM000677.1:g.48707903C>T	GRCh37
NC_000015.8:g.46495195C>T	NCBI36
NG_008805.2:g.235083G>A , LRG_778:g.235083G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*689G>A	ENSP00000453958.2:n.*689G>A
ENST00000674301.2:c.*1394G>A	ENSP00000501333.2:n.*1394G>A
ENST00000682158.1:n.1262G>A
ENST00000682170.1:n.2062G>A
ENST00000682767.1:n.1178G>A
ENST00000316623.10:c.7881G>A MANE Select	ENSP00000325527.5:p.Gly2627=
ENST00000674301.1:c.3047G>A	ENSP00000501333.1:n.3047G>A
ENST00000316623.9:c.7881G>A	ENSP00000325527.5:p.Gly2627=
ENST00000559133.5:c.3250G>A
ENST00000561429.1:n.136G>A
NM_000138.4:c.7881G>A , LRG_778t1:c.7881G>A	NP_000129.3:p.Gly2627=
NM_000138.5:c.7881G>A MANE Select	NP_000129.3:p.Gly2627=