Canonical Allele Identifier: CA2175492644
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48445455T= , CM000677.2:g.48445455T= GRCh38
NC_000015.9:g.48737652T= , CM000677.1:g.48737652T= GRCh37
NC_000015.8:g.46524944T= NCBI36
NG_008805.2:g.205334A= , LRG_778:g.205334A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5838A= ENSP00000453958.2:p.Gln1946=
ENST00000674301.2:c.5838A= ENSP00000501333.2:p.Gln1946=
ENST00000684448.1:n.4512A=
ENST00000316623.10:c.5838A= MANE Select ENSP00000325527.5:p.Gln1946=
ENST00000674301.1:c.837A= ENSP00000501333.1:p.Gln279=
ENST00000316623.9:c.5838A= ENSP00000325527.5:p.Gln1946=
ENST00000537463.6:c.*1601A= ENSP00000440294.2:n.*1601A=
ENST00000559133.5:c.1145A=
NM_000138.4:c.5838A= , LRG_778t1:c.5838A= NP_000129.3:p.Gln1946=
NM_000138.5:c.5838A= MANE Select NP_000129.3:p.Gln1946=
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