Canonical Allele Identifier: CA058560
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 628178
ClinVar RCV Id: RCV000772516 RCV000780236 RCV001547850 RCV003768330 RCV003999968
dbSNP Id: rs374630707
ExAC: 15:48717568 T / C
gnomAD v2: 15-48717568-T-C
gnomAD v3: 15-48425371-T-C
gnomAD v4: 15-48425371-T-C
MyVariant Identifiers: chr15:g.48717568T>C (hg19) chr15:g.48425371T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48425371T>C , CM000677.2:g.48425371T>C GRCh38
NC_000015.9:g.48717568T>C , CM000677.1:g.48717568T>C GRCh37
NC_000015.8:g.46504860T>C NCBI36
NG_008805.2:g.225418A>G , LRG_778:g.225418A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.*259A>G ENSP00000453958.2:n.*259A>G
ENST00000674301.2:c.*964A>G ENSP00000501333.2:n.*964A>G
ENST00000682170.1:n.1632A>G
ENST00000682767.1:n.748A>G
ENST00000316623.10:c.7451A>G MANE Select ENSP00000325527.5:p.Lys2484Arg
ENST00000674301.1:c.2617A>G ENSP00000501333.1:n.2617A>G
ENST00000316623.9:c.7451A>G ENSP00000325527.5:p.Lys2484Arg
ENST00000559133.5:c.2820A>G
NM_000138.4:c.7451A>G , LRG_778t1:c.7451A>G NP_000129.3:p.Lys2484Arg
NM_000138.5:c.7451A>G MANE Select NP_000129.3:p.Lys2484Arg
Search 100 bp 5'
Search 100 bp 3'