Canonical Allele Identifier: CA058726
Gene: FBN1 HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.48422006C>T
GRCh37 chr15:g.48714203C>T
Revel Score:
ENST00000316623 (MANE Select) 0.242
gnomAD v2:
15:48714203 C / T
gnomAD v3:
15:48422006 C / T
gnomAD v4:
chr15-48422006-C-T
Joint Max Group AF 0.00002233 (NFE)
Genomes Max Group AF 0.00002262 (AMR)
Exomes Max Group AF 0.00002082 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48422006C>T , CM000677.2:g.48422006C>T GRCh38
NC_000015.9:g.48714203C>T , CM000677.1:g.48714203C>T GRCh37
NC_000015.8:g.46501495C>T NCBI36
NG_008805.2:g.228783G>A , LRG_778:g.228783G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.*324G>A ENSP00000453958.2:n.*324G>A
ENST00000674301.2:c.*1029G>A ENSP00000501333.2:n.*1029G>A
ENST00000682170.1:n.1697G>A
ENST00000682767.1:n.813G>A
ENST00000316623.10:c.7516G>A MANE Select ENSP00000325527.5:p.Gly2506Ser
ENST00000674301.1:c.2682G>A ENSP00000501333.1:n.2682G>A
ENST00000316623.9:c.7516G>A ENSP00000325527.5:p.Gly2506Ser
ENST00000559133.5:c.2885G>A
NM_000138.4:c.7516G>A , LRG_778t1:c.7516G>A NP_000129.3:p.Gly2506Ser
NM_000138.5:c.7516G>A MANE Select NP_000129.3:p.Gly2506Ser
Search 100 bp 5'
Search 100 bp 3'