Canonical Allele Identifier: CA2175496715
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48434538C= , CM000677.2:g.48434538C= GRCh38
NC_000015.9:g.48726735C= , CM000677.1:g.48726735C= GRCh37
NC_000015.8:g.46514027C= NCBI36
NG_008805.2:g.216251G= , LRG_778:g.216251G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.6616+56G= ENSP00000453958.2:n.6616+56G=
ENST00000674301.2:c.6616+56G= ENSP00000501333.2:n.6616+56G=
ENST00000682170.1:n.225+56G=
ENST00000316623.10:c.6616+56G= MANE Select ENSP00000325527.5:n.6616+56G=
ENST00000674301.1:c.1615+56G= ENSP00000501333.1:n.1615+56G=
ENST00000316623.9:c.6616+56G= ENSP00000325527.5:n.6616+56G=
ENST00000537463.6:c.*2379+56G= ENSP00000440294.2:n.*2379+56G=
ENST00000559133.5:c.1923+56G=
NM_000138.4:c.6616+56G= , LRG_778t1:c.6616+56G= NP_000129.3:n.6616+56G=
NM_000138.5:c.6616+56G= MANE Select NP_000129.3:n.6616+56G=
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