Canonical Allele Identifier: CA058702
Gene: FBN1 HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.48422021C>G
GRCh37 chr15:g.48714218C>G
Revel Score:
ENST00000316623 (MANE Select) 0.523
gnomAD v2:
15:48714218 C / G
gnomAD v3:
15:48422021 C / G
gnomAD v4:
chr15-48422021-C-G
Joint Max Group AF 0.00001746 (AFR)
Genomes Max Group AF 0.00001921 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48422021C>G , CM000677.2:g.48422021C>G GRCh38
NC_000015.9:g.48714218C>G , CM000677.1:g.48714218C>G GRCh37
NC_000015.8:g.46501510C>G NCBI36
NG_008805.2:g.228768G>C , LRG_778:g.228768G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.*309G>C ENSP00000453958.2:n.*309G>C
ENST00000674301.2:c.*1014G>C ENSP00000501333.2:n.*1014G>C
ENST00000682170.1:n.1682G>C
ENST00000682767.1:n.798G>C
ENST00000316623.10:c.7501G>C MANE Select ENSP00000325527.5:p.Val2501Leu
ENST00000674301.1:c.2667G>C ENSP00000501333.1:n.2667G>C
ENST00000316623.9:c.7501G>C ENSP00000325527.5:p.Val2501Leu
ENST00000559133.5:c.2870G>C
NM_000138.4:c.7501G>C , LRG_778t1:c.7501G>C NP_000129.3:p.Val2501Leu
NM_000138.5:c.7501G>C MANE Select NP_000129.3:p.Val2501Leu
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