Canonical Allele Identifier: CA2628324797
Gene: FBN1 HGNC NCBI

Linked Data

gnomAD v4: 15-48410655-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48410655A>C , CM000677.2:g.48410655A>C GRCh38
NC_000015.9:g.48702852A>C , CM000677.1:g.48702852A>C GRCh37
NC_000015.8:g.46490144A>C NCBI36
NG_008805.2:g.240134T>G , LRG_778:g.240134T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.*1759T>G ENSP00000453958.2:n.*1759T>G
ENST00000682158.1:n.2332T>G
ENST00000682170.1:n.3132T>G
ENST00000682767.1:n.2248T>G
ENST00000316623.10:c.*335T>G MANE Select ENSP00000325527.5:n.*335T>G
ENST00000316623.9:c.*335T>G ENSP00000325527.5:n.*335T>G
ENST00000559133.5:c.4320T>G
NM_000138.4:c.*335T>G , LRG_778t1:c.*335T>G NP_000129.3:n.*335T>G
NM_000138.5:c.*335T>G MANE Select NP_000129.3:n.*335T>G
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