Canonical Allele Identifier: CA392321628

Gene: FBN1

Linked Data

• dbSNP Id: rs1176094152
• gnomAD v2: 15-48704929-G-A
• gnomAD v3: 15-48412732-G-A
• gnomAD v4: 15-48412732-G-A
• MyVariant Identifiers: chr15:g.48704929G>A (hg19) ; chr15:g.48412732G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48412732G>A , CM000677.2:g.48412732G>A	GRCh38
NC_000015.9:g.48704929G>A , CM000677.1:g.48704929G>A	GRCh37
NC_000015.8:g.46492221G>A	NCBI36
NG_008805.2:g.238057C>T , LRG_778:g.238057C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*871C>T	ENSP00000453958.2:n.*871C>T
ENST00000674301.2:c.*1576C>T	ENSP00000501333.2:n.*1576C>T
ENST00000682158.1:n.1444C>T
ENST00000682170.1:n.2244C>T
ENST00000682767.1:n.1360C>T
ENST00000316623.10:c.8063C>T MANE Select	ENSP00000325527.5:p.Ser2688Phe
ENST00000674301.1:c.3229C>T	ENSP00000501333.1:n.3229C>T
ENST00000316623.9:c.8063C>T	ENSP00000325527.5:p.Ser2688Phe
ENST00000559133.5:c.3432C>T
ENST00000561429.1:n.318C>T
NM_000138.4:c.8063C>T , LRG_778t1:c.8063C>T	NP_000129.3:p.Ser2688Phe
NM_000138.5:c.8063C>T MANE Select	NP_000129.3:p.Ser2688Phe