Canonical Allele Identifier: CA392350592

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48464022C>G , CM000677.2:g.48464022C>G	GRCh38
NC_000015.9:g.48756219C>G , CM000677.1:g.48756219C>G	GRCh37
NC_000015.8:g.46543511C>G	NCBI36
NG_008805.2:g.186767G>C , LRG_778:g.186767G>C

Transcript Alleles

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