Canonical Allele Identifier: CA2175485392
Gene: FBN1 HGNC NCBI

Linked Data

dbSNP Id: rs2042848129
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48410056A>G , CM000677.2:g.48410056A>G GRCh38
NC_000015.9:g.48702253A>G , CM000677.1:g.48702253A>G GRCh37
NC_000015.8:g.46489545A>G NCBI36
NG_008805.2:g.240733T>C , LRG_778:g.240733T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000682170.1:n.3731T>C
ENST00000682767.1:n.2847T>C
ENST00000316623.10:c.*934T>C MANE Select ENSP00000325527.5:n.*934T>C
ENST00000316623.9:c.*934T>C ENSP00000325527.5:n.*934T>C
NM_000138.4:c.*934T>C , LRG_778t1:c.*934T>C NP_000129.3:n.*934T>C
NM_000138.5:c.*934T>C MANE Select NP_000129.3:n.*934T>C
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