Canonical Allele Identifier: CA10642071
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 316301
ClinVar RCV Id: RCV000281096 RCV000287166 RCV000321073 RCV000326230 RCV000338536 RCV000378584 RCV000378020 RCV000390998
dbSNP Id: rs886051222
MyVariant Identifiers: chr15:g.48700654G>T (hg19) chr15:g.48408457G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48408457G>T , CM000677.2:g.48408457G>T GRCh38
NC_000015.9:g.48700654G>T , CM000677.1:g.48700654G>T GRCh37
NC_000015.8:g.46487946G>T NCBI36
NG_008805.2:g.242332C>A , LRG_778:g.242332C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000316623.10:c.*2533C>A MANE Select ENSP00000325527.5:n.*2533C>A
ENST00000316623.9:c.*2533C>A ENSP00000325527.5:n.*2533C>A
NM_000138.4:c.*2533C>A , LRG_778t1:c.*2533C>A NP_000129.3:n.*2533C>A
NM_000138.5:c.*2533C>A MANE Select NP_000129.3:n.*2533C>A
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