Canonical Allele Identifier: CA2175486004
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48410823G= , CM000677.2:g.48410823G= GRCh38
NC_000015.9:g.48703020G= , CM000677.1:g.48703020G= GRCh37
NC_000015.8:g.46490312G= NCBI36
NG_008805.2:g.239966C= , LRG_778:g.239966C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.*1591C= ENSP00000453958.2:n.*1591C=
ENST00000682158.1:n.2164C=
ENST00000682170.1:n.2964C=
ENST00000682767.1:n.2080C=
ENST00000316623.10:c.*167C= MANE Select ENSP00000325527.5:n.*167C=
ENST00000316623.9:c.*167C= ENSP00000325527.5:n.*167C=
ENST00000559133.5:c.4152C=
NM_000138.4:c.*167C= , LRG_778t1:c.*167C= NP_000129.3:n.*167C=
NM_000138.5:c.*167C= MANE Select NP_000129.3:n.*167C=
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