Canonical Allele Identifier: CA969578177
Gene: FBN1 HGNC NCBI

Linked Data

dbSNP Id: rs2042836258
gnomAD v3: 15-48408557-T-C
gnomAD v4: 15-48408557-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48408557T>C , CM000677.2:g.48408557T>C GRCh38
NC_000015.9:g.48700754T>C , CM000677.1:g.48700754T>C GRCh37
NC_000015.8:g.46488046T>C NCBI36
NG_008805.2:g.242232A>G , LRG_778:g.242232A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000682170.1:n.5230A>G
ENST00000682767.1:n.4346A>G
ENST00000316623.10:c.*2433A>G MANE Select ENSP00000325527.5:n.*2433A>G
ENST00000316623.9:c.*2433A>G ENSP00000325527.5:n.*2433A>G
NM_000138.4:c.*2433A>G , LRG_778t1:c.*2433A>G NP_000129.3:n.*2433A>G
NM_000138.5:c.*2433A>G MANE Select NP_000129.3:n.*2433A>G
Search 100 bp 5'
Search 100 bp 3'