Canonical Allele Identifier: CA017685
Gene: FBN1 HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.48411295C>T
GRCh37 chr15:g.48703492C>T
Revel Score:
ENST00000316623 (MANE Select) 0.164
gnomAD v2:
15:48703492 C / T
gnomAD v3:
15:48411295 C / T
gnomAD v4:
chr15-48411295-C-T
Joint Max Group AF 0.00019903 (SAS)
Genomes Max Group AF 0.00003251 (AFR)
Exomes Max Group AF 0.0002111 (SAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48411295C>T , CM000677.2:g.48411295C>T GRCh38
NC_000015.9:g.48703492C>T , CM000677.1:g.48703492C>T GRCh37
NC_000015.8:g.46490784C>T NCBI36
NG_008805.2:g.239494G>A , LRG_778:g.239494G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.*1119G>A ENSP00000453958.2:n.*1119G>A
ENST00000674301.2:c.*1824G>A ENSP00000501333.2:n.*1824G>A
ENST00000682158.1:n.1692G>A
ENST00000682170.1:n.2492G>A
ENST00000682767.1:n.1608G>A
ENST00000316623.10:c.8311G>A MANE Select ENSP00000325527.5:p.Val2771Ile
ENST00000674301.1:c.3477G>A ENSP00000501333.1:n.3477G>A
ENST00000316623.9:c.8311G>A ENSP00000325527.5:p.Val2771Ile
ENST00000559133.5:c.3680G>A
ENST00000561429.1:n.566G>A
NM_000138.4:c.8311G>A , LRG_778t1:c.8311G>A NP_000129.3:p.Val2771Ile
NM_000138.5:c.8311G>A MANE Select NP_000129.3:p.Val2771Ile
Search 100 bp 5'
Search 100 bp 3'