Canonical Allele Identifier: CA269518376
Gene: FBN1 HGNC NCBI

Linked Data

dbSNP Id: rs561911965
gnomAD v3: 15-48408946-G-T
gnomAD v4: 15-48408946-G-T
MyVariant Identifiers: chr15:g.48701143G>T (hg19) chr15:g.48408946G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48408946G>T , CM000677.2:g.48408946G>T GRCh38
NC_000015.9:g.48701143G>T , CM000677.1:g.48701143G>T GRCh37
NC_000015.8:g.46488435G>T NCBI36
NG_008805.2:g.241843C>A , LRG_778:g.241843C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682170.1:n.4841C>A
ENST00000682767.1:n.3957C>A
ENST00000316623.10:c.*2044C>A MANE Select ENSP00000325527.5:n.*2044C>A
ENST00000316623.9:c.*2044C>A ENSP00000325527.5:n.*2044C>A
NM_000138.4:c.*2044C>A , LRG_778t1:c.*2044C>A NP_000129.3:n.*2044C>A
NM_000138.5:c.*2044C>A MANE Select NP_000129.3:n.*2044C>A
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