Canonical Allele Identifier: CA392345856
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48456655T>A , CM000677.2:g.48456655T>A GRCh38
NC_000015.9:g.48748852T>A , CM000677.1:g.48748852T>A GRCh37
NC_000015.8:g.46536144T>A NCBI36
NG_008805.2:g.194134A>T , LRG_778:g.194134A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5404A>T ENSP00000453958.2:p.Lys1802Ter
ENST00000674301.2:c.5404A>T ENSP00000501333.2:p.Lys1802Ter
ENST00000684448.1:n.4078A>T
ENST00000316623.10:c.5404A>T MANE Select ENSP00000325527.5:p.Lys1802Ter
ENST00000674301.1:c.403A>T ENSP00000501333.1:p.Lys135Ter
ENST00000316623.9:c.5404A>T ENSP00000325527.5:p.Lys1802Ter
ENST00000537463.6:c.*1167A>T ENSP00000440294.2:n.*1167A>T
ENST00000559133.5:c.711A>T
NM_000138.4:c.5404A>T , LRG_778t1:c.5404A>T NP_000129.3:p.Lys1802Ter
NM_000138.5:c.5404A>T MANE Select NP_000129.3:p.Lys1802Ter
Search 100 bp 5'
Search 100 bp 3'