Canonical Allele Identifier: CA392323367

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48415720G>C , CM000677.2:g.48415720G>C	GRCh38
NC_000015.9:g.48707917G>C , CM000677.1:g.48707917G>C	GRCh37
NC_000015.8:g.46495209G>C	NCBI36
NG_008805.2:g.235069C>G , LRG_778:g.235069C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.7867C>G MANE Select	NP_000129.3:p.His2623Asp
ENST00000316623.10:c.7867C>G MANE Select	ENSP00000325527.5:p.His2623Asp
NM_000138.4:c.7867C>G , LRG_778t1:c.7867C>G	NP_000129.3:p.His2623Asp
ENST00000316623.9:c.7867C>G	ENSP00000325527.5:p.His2623Asp
ENST00000559133.5:c.3236C>G
ENST00000559133.6:c.*675C>G	ENSP00000453958.2:n.*675C>G
ENST00000561429.1:n.122C>G
ENST00000674301.1:c.3033C>G	ENSP00000501333.1:n.3033C>G
ENST00000674301.2:c.*1380C>G	ENSP00000501333.2:n.*1380C>G
ENST00000682158.1:n.1248C>G
ENST00000682170.1:n.2048C>G
ENST00000682767.1:n.1164C>G