Canonical Allele Identifier: CA2804070245

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48409524A>G , CM000677.2:g.48409524A>G	GRCh38
NC_000015.9:g.48701721A>G , CM000677.1:g.48701721A>G	GRCh37
NC_000015.8:g.46489013A>G	NCBI36
NG_008805.2:g.241265T>C , LRG_778:g.241265T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682170.1:n.4263T>C
ENST00000682767.1:n.3379T>C
ENST00000316623.10:c.*1466T>C MANE Select	ENSP00000325527.5:n.*1466T>C
ENST00000316623.9:c.*1466T>C	ENSP00000325527.5:n.*1466T>C
NM_000138.4:c.*1466T>C , LRG_778t1:c.*1466T>C	NP_000129.3:n.*1466T>C
NM_000138.5:c.*1466T>C MANE Select	NP_000129.3:n.*1466T>C