Canonical Allele Identifier: CA392342589
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 921836
ClinVar RCV Id: RCV001181488 RCV001255465 RCV003769986
dbSNP Id: rs2043778389
gnomAD v4: 15-48513624-T-C
MyVariant Identifiers: chr15:g.48805821T>C (hg19) chr15:g.48513624T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48513624T>C , CM000677.2:g.48513624T>C GRCh38
NC_000015.9:g.48805821T>C , CM000677.1:g.48805821T>C GRCh37
NC_000015.8:g.46593113T>C NCBI36
NG_008805.2:g.137165A>G , LRG_778:g.137165A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.1513A>G ENSP00000453958.2:p.Ile505Val
ENST00000674301.2:c.1513A>G ENSP00000501333.2:p.Ile505Val
ENST00000684448.1:n.187A>G
ENST00000316623.10:c.1513A>G MANE Select ENSP00000325527.5:p.Ile505Val
ENST00000316623.9:c.1513A>G ENSP00000325527.5:p.Ile505Val
ENST00000537463.6:c.636+24087A>G ENSP00000440294.2:n.636+24087A>G
NM_000138.4:c.1513A>G , LRG_778t1:c.1513A>G NP_000129.3:p.Ile505Val
NM_000138.5:c.1513A>G MANE Select NP_000129.3:p.Ile505Val
Search 100 bp 5'
Search 100 bp 3'