Canonical Allele Identifier: CA617840249

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48465707A>C , CM000677.2:g.48465707A>C	GRCh38
NC_000015.9:g.48757904A>C , CM000677.1:g.48757904A>C	GRCh37
NC_000015.8:g.46545196A>C	NCBI36
NG_008805.2:g.185082T>G , LRG_778:g.185082T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.4817-14T>G MANE Select	NP_000129.3:n.4817-14T>G
ENST00000316623.10:c.4817-14T>G MANE Select	ENSP00000325527.5:n.4817-14T>G
NM_000138.4:c.4817-14T>G , LRG_778t1:c.4817-14T>G	NP_000129.3:n.4817-14T>G
ENST00000316623.9:c.4817-14T>G	ENSP00000325527.5:n.4817-14T>G
ENST00000537463.6:c.*580-14T>G	ENSP00000440294.2:n.*580-14T>G
ENST00000559133.5:c.124-14T>G
ENST00000559133.6:c.4817-14T>G	ENSP00000453958.2:n.4817-14T>G
ENST00000674301.2:c.4817-14T>G	ENSP00000501333.2:n.4817-14T>G
ENST00000684448.1:n.3491-14T>G