Canonical Allele Identifier: CA2175485872
Gene: FBN1 HGNC NCBI

Linked Data

dbSNP Id: rs963748087
gnomAD v4: 15-48410644-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48410644T>C , CM000677.2:g.48410644T>C GRCh38
NC_000015.9:g.48702841T>C , CM000677.1:g.48702841T>C GRCh37
NC_000015.8:g.46490133T>C NCBI36
NG_008805.2:g.240145A>G , LRG_778:g.240145A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.*1770A>G ENSP00000453958.2:n.*1770A>G
ENST00000682158.1:n.2343A>G
ENST00000682170.1:n.3143A>G
ENST00000682767.1:n.2259A>G
ENST00000316623.10:c.*346A>G MANE Select ENSP00000325527.5:n.*346A>G
ENST00000316623.9:c.*346A>G ENSP00000325527.5:n.*346A>G
ENST00000559133.5:c.4331A>G
NM_000138.4:c.*346A>G , LRG_778t1:c.*346A>G NP_000129.3:n.*346A>G
NM_000138.5:c.*346A>G MANE Select NP_000129.3:n.*346A>G
Search 100 bp 5'
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