Canonical Allele Identifier: CA2175508390
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48441563T= , CM000677.2:g.48441563T= GRCh38
NC_000015.9:g.48733760T= , CM000677.1:g.48733760T= GRCh37
NC_000015.8:g.46521052T= NCBI36
NG_008805.2:g.209226A= , LRG_778:g.209226A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.6163+158A= ENSP00000453958.2:n.6163+158A=
ENST00000674301.2:c.6163+158A= ENSP00000501333.2:n.6163+158A=
ENST00000316623.10:c.6163+158A= MANE Select ENSP00000325527.5:n.6163+158A=
ENST00000674301.1:c.1162+158A= ENSP00000501333.1:n.1162+158A=
ENST00000316623.9:c.6163+158A= ENSP00000325527.5:n.6163+158A=
ENST00000537463.6:c.*1926+158A= ENSP00000440294.2:n.*1926+158A=
ENST00000559133.5:c.1470+158A=
ENST00000560820.1:n.283+158A=
NM_000138.4:c.6163+158A= , LRG_778t1:c.6163+158A= NP_000129.3:n.6163+158A=
NM_000138.5:c.6163+158A= MANE Select NP_000129.3:n.6163+158A=
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