Canonical Allele Identifier: CA017414
Gene: FBN1 HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.48415741T>C
GRCh37 chr15:g.48707938T>C
Revel Score:
ENST00000316623 (MANE Select) 0.521
gnomAD v2:
15:48707938 T / C
gnomAD v3:
15:48415741 T / C
gnomAD v4:
chr15-48415741-T-C
Joint Max Group AF 0.00019007 (NFE)
Genomes Max Group AF 0.00011225 (NFE)
Exomes Max Group AF 0.00019085 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48415741T>C , CM000677.2:g.48415741T>C GRCh38
NC_000015.9:g.48707938T>C , CM000677.1:g.48707938T>C GRCh37
NC_000015.8:g.46495230T>C NCBI36
NG_008805.2:g.235048A>G , LRG_778:g.235048A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.*654A>G ENSP00000453958.2:n.*654A>G
ENST00000674301.2:c.*1359A>G ENSP00000501333.2:n.*1359A>G
ENST00000682158.1:n.1227A>G
ENST00000682170.1:n.2027A>G
ENST00000682767.1:n.1143A>G
ENST00000316623.10:c.7846A>G MANE Select ENSP00000325527.5:p.Ile2616Val
ENST00000674301.1:c.3012A>G ENSP00000501333.1:n.3012A>G
ENST00000316623.9:c.7846A>G ENSP00000325527.5:p.Ile2616Val
ENST00000559133.5:c.3215A>G
ENST00000561429.1:n.101A>G
NM_000138.4:c.7846A>G , LRG_778t1:c.7846A>G NP_000129.3:p.Ile2616Val
NM_000138.5:c.7846A>G MANE Select NP_000129.3:p.Ile2616Val
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