Canonical Allele Identifier: CA2175486031
Gene: FBN1 HGNC NCBI

Linked Data

dbSNP Id: rs2042855065
gnomAD v4: 15-48410873-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48410873A>G , CM000677.2:g.48410873A>G GRCh38
NC_000015.9:g.48703070A>G , CM000677.1:g.48703070A>G GRCh37
NC_000015.8:g.46490362A>G NCBI36
NG_008805.2:g.239916T>C , LRG_778:g.239916T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.*1541T>C ENSP00000453958.2:n.*1541T>C
ENST00000682158.1:n.2114T>C
ENST00000682170.1:n.2914T>C
ENST00000682767.1:n.2030T>C
ENST00000316623.10:c.*117T>C MANE Select ENSP00000325527.5:n.*117T>C
ENST00000316623.9:c.*117T>C ENSP00000325527.5:n.*117T>C
ENST00000559133.5:c.4102T>C
NM_000138.4:c.*117T>C , LRG_778t1:c.*117T>C NP_000129.3:n.*117T>C
NM_000138.5:c.*117T>C MANE Select NP_000129.3:n.*117T>C
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