Canonical Allele Identifier: CA059587

Gene: FBN1

Linked Data

• dbSNP Id: rs201648983
• ExAC: 15:48704932 A / G
• gnomAD v2: 15-48704932-A-G
• gnomAD v3: 15-48412735-A-G
• gnomAD v4: 15-48412735-A-G
• MyVariant Identifiers: chr15:g.48704932A>G (hg19) ; chr15:g.48412735A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48412735A>G , CM000677.2:g.48412735A>G	GRCh38
NC_000015.9:g.48704932A>G , CM000677.1:g.48704932A>G	GRCh37
NC_000015.8:g.46492224A>G	NCBI36
NG_008805.2:g.238054T>C , LRG_778:g.238054T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*868T>C	ENSP00000453958.2:n.*868T>C
ENST00000674301.2:c.*1573T>C	ENSP00000501333.2:n.*1573T>C
ENST00000682158.1:n.1441T>C
ENST00000682170.1:n.2241T>C
ENST00000682767.1:n.1357T>C
ENST00000316623.10:c.8060T>C MANE Select	ENSP00000325527.5:p.Val2687Ala
ENST00000674301.1:c.3226T>C	ENSP00000501333.1:n.3226T>C
ENST00000316623.9:c.8060T>C	ENSP00000325527.5:p.Val2687Ala
ENST00000559133.5:c.3429T>C
ENST00000561429.1:n.315T>C
NM_000138.4:c.8060T>C , LRG_778t1:c.8060T>C	NP_000129.3:p.Val2687Ala
NM_000138.5:c.8060T>C MANE Select	NP_000129.3:p.Val2687Ala