Canonical Allele Identifier: CA059776
Gene: FBN1 HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.48412572G>A
GRCh37 chr15:g.48704769G>A
gnomAD v2:
15:48704769 G / A
gnomAD v3:
15:48412572 G / A
gnomAD v4:
chr15-48412572-G-A
Joint Max Group AF 0.00004284 (AMR)
Genomes Max Group AF 0.00002261 (AMR)
Exomes Max Group AF 0.00002985 (AMR)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48412572G>A , CM000677.2:g.48412572G>A GRCh38
NC_000015.9:g.48704769G>A , CM000677.1:g.48704769G>A GRCh37
NC_000015.8:g.46492061G>A NCBI36
NG_008805.2:g.238217C>T , LRG_778:g.238217C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.*1031C>T ENSP00000453958.2:n.*1031C>T
ENST00000674301.2:c.*1736C>T ENSP00000501333.2:n.*1736C>T
ENST00000682158.1:n.1604C>T
ENST00000682170.1:n.2404C>T
ENST00000682767.1:n.1520C>T
ENST00000316623.10:c.8223C>T MANE Select ENSP00000325527.5:p.Ile2741=
ENST00000674301.1:c.3389C>T ENSP00000501333.1:n.3389C>T
ENST00000316623.9:c.8223C>T ENSP00000325527.5:p.Ile2741=
ENST00000559133.5:c.3592C>T
ENST00000561429.1:n.478C>T
NM_000138.4:c.8223C>T , LRG_778t1:c.8223C>T NP_000129.3:p.Ile2741=
NM_000138.5:c.8223C>T MANE Select NP_000129.3:p.Ile2741=
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