Canonical Allele Identifier: CA392320707

Gene: FBN1

Linked Data

• dbSNP Id: rs1313235916
• gnomAD v2: 15-48704780-C-A
• gnomAD v4: 15-48412583-C-A
• MyVariant Identifiers: chr15:g.48704780C>A (hg19) ; chr15:g.48412583C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48412583C>A , CM000677.2:g.48412583C>A	GRCh38
NC_000015.9:g.48704780C>A , CM000677.1:g.48704780C>A	GRCh37
NC_000015.8:g.46492072C>A	NCBI36
NG_008805.2:g.238206G>T , LRG_778:g.238206G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1020G>T	ENSP00000453958.2:n.*1020G>T
ENST00000674301.2:c.*1725G>T	ENSP00000501333.2:n.*1725G>T
ENST00000682158.1:n.1593G>T
ENST00000682170.1:n.2393G>T
ENST00000682767.1:n.1509G>T
ENST00000316623.10:c.8212G>T MANE Select	ENSP00000325527.5:p.Ala2738Ser
ENST00000674301.1:c.3378G>T	ENSP00000501333.1:n.3378G>T
ENST00000316623.9:c.8212G>T	ENSP00000325527.5:p.Ala2738Ser
ENST00000559133.5:c.3581G>T
ENST00000561429.1:n.467G>T
NM_000138.4:c.8212G>T , LRG_778t1:c.8212G>T	NP_000129.3:p.Ala2738Ser
NM_000138.5:c.8212G>T MANE Select	NP_000129.3:p.Ala2738Ser