Canonical Allele Identifier: CA2175484727
Gene: FBN1 HGNC NCBI

Linked Data

dbSNP Id: rs2042842527
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48409344C>A , CM000677.2:g.48409344C>A GRCh38
NC_000015.9:g.48701541C>A , CM000677.1:g.48701541C>A GRCh37
NC_000015.8:g.46488833C>A NCBI36
NG_008805.2:g.241445G>T , LRG_778:g.241445G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682170.1:n.4443G>T
ENST00000682767.1:n.3559G>T
ENST00000316623.10:c.*1646G>T MANE Select ENSP00000325527.5:n.*1646G>T
ENST00000316623.9:c.*1646G>T ENSP00000325527.5:n.*1646G>T
NM_000138.4:c.*1646G>T , LRG_778t1:c.*1646G>T NP_000129.3:n.*1646G>T
NM_000138.5:c.*1646G>T MANE Select NP_000129.3:n.*1646G>T
Search 100 bp 5'
Search 100 bp 3'