Canonical Allele Identifier: CA059520
Gene: FBN1 HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.48415531C>T
GRCh37 chr15:g.48707728C>T
gnomAD v2:
15:48707728 C / T
gnomAD v3:
15:48415531 C / T
gnomAD v4:
chr15-48415531-C-T
Joint Max Group AF 0.00006269 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00006443 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48415531C>T , CM000677.2:g.48415531C>T GRCh38
NC_000015.9:g.48707728C>T , CM000677.1:g.48707728C>T GRCh37
NC_000015.8:g.46495020C>T NCBI36
NG_008805.2:g.235258G>A , LRG_778:g.235258G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.*859+5G>A ENSP00000453958.2:n.*859+5G>A
ENST00000674301.2:c.*1564+5G>A ENSP00000501333.2:n.*1564+5G>A
ENST00000682158.1:n.1432+5G>A
ENST00000682170.1:n.2232+5G>A
ENST00000682767.1:n.1348+5G>A
ENST00000316623.10:c.8051+5G>A MANE Select ENSP00000325527.5:n.8051+5G>A
ENST00000674301.1:c.3217+5G>A ENSP00000501333.1:n.3217+5G>A
ENST00000316623.9:c.8051+5G>A ENSP00000325527.5:n.8051+5G>A
ENST00000559133.5:c.3420+5G>A
ENST00000561429.1:n.306+5G>A
NM_000138.4:c.8051+5G>A , LRG_778t1:c.8051+5G>A NP_000129.3:n.8051+5G>A
NM_000138.5:c.8051+5G>A MANE Select NP_000129.3:n.8051+5G>A
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