Canonical Allele Identifier: CA617832340
Gene: FBN1 HGNC NCBI

Linked Data

dbSNP Id: rs1348820556
gnomAD v2: 15-48701719-C-G
MyVariant Identifiers: chr15:g.48701719C>G (hg19) chr15:g.48409522C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48409522C>G , CM000677.2:g.48409522C>G GRCh38
NC_000015.9:g.48701719C>G , CM000677.1:g.48701719C>G GRCh37
NC_000015.8:g.46489011C>G NCBI36
NG_008805.2:g.241267G>C , LRG_778:g.241267G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000682170.1:n.4265G>C
ENST00000682767.1:n.3381G>C
ENST00000316623.10:c.*1468G>C MANE Select ENSP00000325527.5:n.*1468G>C
ENST00000316623.9:c.*1468G>C ENSP00000325527.5:n.*1468G>C
NM_000138.4:c.*1468G>C , LRG_778t1:c.*1468G>C NP_000129.3:n.*1468G>C
NM_000138.5:c.*1468G>C MANE Select NP_000129.3:n.*1468G>C
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