Canonical Allele Identifier: CA713377322
Gene: FBN1 HGNC NCBI

Linked Data

dbSNP Id: rs1420321100
gnomAD v3: 15-48409514-C-A
gnomAD v4: 15-48409514-C-A
MyVariant Identifiers: chr15:g.48701711C>A (hg19) chr15:g.48409514C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48409514C>A , CM000677.2:g.48409514C>A GRCh38
NC_000015.9:g.48701711C>A , CM000677.1:g.48701711C>A GRCh37
NC_000015.8:g.46489003C>A NCBI36
NG_008805.2:g.241275G>T , LRG_778:g.241275G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682170.1:n.4273G>T
ENST00000682767.1:n.3389G>T
ENST00000316623.10:c.*1476G>T MANE Select ENSP00000325527.5:n.*1476G>T
ENST00000316623.9:c.*1476G>T ENSP00000325527.5:n.*1476G>T
NM_000138.4:c.*1476G>T , LRG_778t1:c.*1476G>T NP_000129.3:n.*1476G>T
NM_000138.5:c.*1476G>T MANE Select NP_000129.3:n.*1476G>T
Search 100 bp 5'
Search 100 bp 3'