Canonical Allele Identifier: CA057619

Gene: FBN1

Linked Data

• dbSNP Id: rs748762575
• ExAC: 15:48720576 A / G
• gnomAD v2: 15-48720576-A-G
• gnomAD v4: 15-48428379-A-G
• MyVariant Identifiers: chr15:g.48720576A>G (hg19) ; chr15:g.48428379A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428379A>G , CM000677.2:g.48428379A>G	GRCh38
NC_000015.9:g.48720576A>G , CM000677.1:g.48720576A>G	GRCh37
NC_000015.8:g.46507868A>G	NCBI36
NG_008805.2:g.222410T>C , LRG_778:g.222410T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6964T>C	ENSP00000453958.2:p.Phe2322Leu
ENST00000674301.2:c.*415T>C	ENSP00000501333.2:n.*415T>C
ENST00000682170.1:n.573T>C
ENST00000682767.1:n.199T>C
ENST00000316623.10:c.6964T>C MANE Select	ENSP00000325527.5:p.Phe2322Leu
ENST00000674301.1:c.2068T>C	ENSP00000501333.1:n.2068T>C
ENST00000316623.9:c.6964T>C	ENSP00000325527.5:p.Phe2322Leu
ENST00000559133.5:c.2271T>C
ENST00000560720.1:n.251T>C
NM_000138.4:c.6964T>C , LRG_778t1:c.6964T>C	NP_000129.3:p.Phe2322Leu
NM_000138.5:c.6964T>C MANE Select	NP_000129.3:p.Phe2322Leu