Canonical Allele Identifier: CA2175574399
Gene: FBN1 HGNC NCBI

Linked Data

dbSNP Id: rs2044667718
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48612890G>A , CM000677.2:g.48612890G>A GRCh38
NC_000015.9:g.48905087G>A , CM000677.1:g.48905087G>A GRCh37
NC_000015.8:g.46692379G>A NCBI36
NG_008805.2:g.37899C>T , LRG_778:g.37899C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.247+120C>T ENSP00000453958.2:n.247+120C>T
ENST00000674301.2:c.247+120C>T ENSP00000501333.2:n.247+120C>T
ENST00000316623.10:c.247+120C>T MANE Select ENSP00000325527.5:n.247+120C>T
ENST00000316623.9:c.247+120C>T ENSP00000325527.5:n.247+120C>T
ENST00000537463.6:c.247+120C>T ENSP00000440294.2:n.247+120C>T
NM_000138.4:c.247+120C>T , LRG_778t1:c.247+120C>T NP_000129.3:n.247+120C>T
NM_000138.5:c.247+120C>T MANE Select NP_000129.3:n.247+120C>T
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