Canonical Allele Identifier: CA2628347394

Gene: FBN1

Linked Data

• gnomAD v4: 15-48441912-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48441912A>G , CM000677.2:g.48441912A>G	GRCh38
NC_000015.9:g.48734109A>G , CM000677.1:g.48734109A>G	GRCh37
NC_000015.8:g.46521401A>G	NCBI36
NG_008805.2:g.208877T>C , LRG_778:g.208877T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6038-66T>C	ENSP00000453958.2:n.6038-66T>C
ENST00000674301.2:c.6038-66T>C	ENSP00000501333.2:n.6038-66T>C
ENST00000316623.10:c.6038-66T>C MANE Select	ENSP00000325527.5:n.6038-66T>C
ENST00000674301.1:c.1037-66T>C	ENSP00000501333.1:n.1037-66T>C
ENST00000316623.9:c.6038-66T>C	ENSP00000325527.5:n.6038-66T>C
ENST00000537463.6:c.*1801-66T>C	ENSP00000440294.2:n.*1801-66T>C
ENST00000559133.5:c.1345-66T>C
ENST00000560820.1:n.158-66T>C
NM_000138.4:c.6038-66T>C , LRG_778t1:c.6038-66T>C	NP_000129.3:n.6038-66T>C
NM_000138.5:c.6038-66T>C MANE Select	NP_000129.3:n.6038-66T>C