Canonical Allele Identifier: CA2592719914
Gene: FBN1 HGNC NCBI

Linked Data

dbSNP Id: rs2141208453
gnomAD v3: 15-48410065-C-T
gnomAD v4: 15-48410065-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48410065C>T , CM000677.2:g.48410065C>T GRCh38
NC_000015.9:g.48702262C>T , CM000677.1:g.48702262C>T GRCh37
NC_000015.8:g.46489554C>T NCBI36
NG_008805.2:g.240724G>A , LRG_778:g.240724G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000682170.1:n.3722G>A
ENST00000682767.1:n.2838G>A
ENST00000316623.10:c.*925G>A MANE Select ENSP00000325527.5:n.*925G>A
ENST00000316623.9:c.*925G>A ENSP00000325527.5:n.*925G>A
NM_000138.4:c.*925G>A , LRG_778t1:c.*925G>A NP_000129.3:n.*925G>A
NM_000138.5:c.*925G>A MANE Select NP_000129.3:n.*925G>A
Search 100 bp 5'
Search 100 bp 3'