Canonical Allele Identifier: CA2804070699

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48448918G>C , CM000677.2:g.48448918G>C	GRCh38
NC_000015.9:g.48741115G>C , CM000677.1:g.48741115G>C	GRCh37
NC_000015.8:g.46528407G>C	NCBI36
NG_008805.2:g.201871C>G , LRG_778:g.201871C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5546-25C>G	ENSP00000453958.2:n.5546-25C>G
ENST00000674301.2:c.5546-25C>G	ENSP00000501333.2:n.5546-25C>G
ENST00000684448.1:n.4220-25C>G
ENST00000316623.10:c.5546-25C>G MANE Select	ENSP00000325527.5:n.5546-25C>G
ENST00000674301.1:c.545-25C>G	ENSP00000501333.1:n.545-25C>G
ENST00000316623.9:c.5546-25C>G	ENSP00000325527.5:n.5546-25C>G
ENST00000537463.6:c.*1309-25C>G	ENSP00000440294.2:n.*1309-25C>G
ENST00000559133.5:c.853-25C>G
NM_000138.4:c.5546-25C>G , LRG_778t1:c.5546-25C>G	NP_000129.3:n.5546-25C>G
NM_000138.5:c.5546-25C>G MANE Select	NP_000129.3:n.5546-25C>G