Canonical Allele Identifier: CA2740096584

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48464036G>T , CM000677.2:g.48464036G>T	GRCh38
NC_000015.9:g.48756233G>T , CM000677.1:g.48756233G>T	GRCh37
NC_000015.8:g.46543525G>T	NCBI36
NG_008805.2:g.186753C>A , LRG_778:g.186753C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.4943-15C>A MANE Select	NP_000129.3:n.4943-15C>A
ENST00000316623.10:c.4943-15C>A MANE Select	ENSP00000325527.5:n.4943-15C>A
NM_000138.4:c.4943-15C>A , LRG_778t1:c.4943-15C>A	NP_000129.3:n.4943-15C>A
ENST00000316623.9:c.4943-15C>A	ENSP00000325527.5:n.4943-15C>A
ENST00000537463.6:c.*706-15C>A	ENSP00000440294.2:n.*706-15C>A
ENST00000559133.5:c.250-15C>A
ENST00000559133.6:c.4943-15C>A	ENSP00000453958.2:n.4943-15C>A
ENST00000674301.2:c.4943-15C>A	ENSP00000501333.2:n.4943-15C>A
ENST00000684448.1:n.3617-15C>A