Canonical Allele Identifier: CA490027146
Gene: FBN1 HGNC NCBI

Linked Data

gnomAD v4: 15-48467993-A-G
MyVariant Identifiers: chr15:g.48760190A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48467993A>G , CM000677.2:g.48467993A>G GRCh38
NC_000015.9:g.48760190A>G , CM000677.1:g.48760190A>G GRCh37
NC_000015.8:g.46547482A>G NCBI36
NG_008805.2:g.182796T>C , LRG_778:g.182796T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.4692T>C ENSP00000453958.2:p.Cys1564=
ENST00000674301.2:c.4692T>C ENSP00000501333.2:p.Cys1564=
ENST00000684448.1:n.3366T>C
ENST00000316623.10:c.4692T>C MANE Select ENSP00000325527.5:p.Cys1564=
ENST00000316623.9:c.4692T>C ENSP00000325527.5:p.Cys1564=
ENST00000537463.6:c.*455T>C ENSP00000440294.2:n.*455T>C
NM_000138.4:c.4692T>C , LRG_778t1:c.4692T>C NP_000129.3:p.Cys1564=
NM_000138.5:c.4692T>C MANE Select NP_000129.3:p.Cys1564=
Search 100 bp 5'
Search 100 bp 3'