Canonical Allele Identifier: CA969579010
Gene: FBN1 HGNC NCBI

Linked Data

dbSNP Id: rs2042855174
gnomAD v3: 15-48410894-T-C
gnomAD v4: 15-48410894-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48410894T>C , CM000677.2:g.48410894T>C GRCh38
NC_000015.9:g.48703091T>C , CM000677.1:g.48703091T>C GRCh37
NC_000015.8:g.46490383T>C NCBI36
NG_008805.2:g.239895A>G , LRG_778:g.239895A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.*1520A>G ENSP00000453958.2:n.*1520A>G
ENST00000682158.1:n.2093A>G
ENST00000682170.1:n.2893A>G
ENST00000682767.1:n.2009A>G
ENST00000316623.10:c.*96A>G MANE Select ENSP00000325527.5:n.*96A>G
ENST00000316623.9:c.*96A>G ENSP00000325527.5:n.*96A>G
ENST00000559133.5:c.4081A>G
NM_000138.4:c.*96A>G , LRG_778t1:c.*96A>G NP_000129.3:n.*96A>G
NM_000138.5:c.*96A>G MANE Select NP_000129.3:n.*96A>G
Search 100 bp 5'
Search 100 bp 3'