Canonical Allele Identifier: CA2628347682

Gene: FBN1

Linked Data

• gnomAD v4: 15-48445607-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48445607G>C , CM000677.2:g.48445607G>C	GRCh38
NC_000015.9:g.48737804G>C , CM000677.1:g.48737804G>C	GRCh37
NC_000015.8:g.46525096G>C	NCBI36
NG_008805.2:g.205182C>G , LRG_778:g.205182C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5789-103C>G	ENSP00000453958.2:n.5789-103C>G
ENST00000674301.2:c.5789-103C>G	ENSP00000501333.2:n.5789-103C>G
ENST00000684448.1:n.4463-103C>G
ENST00000316623.10:c.5789-103C>G MANE Select	ENSP00000325527.5:n.5789-103C>G
ENST00000674301.1:c.788-103C>G	ENSP00000501333.1:n.788-103C>G
ENST00000316623.9:c.5789-103C>G	ENSP00000325527.5:n.5789-103C>G
ENST00000537463.6:c.*1552-103C>G	ENSP00000440294.2:n.*1552-103C>G
ENST00000559133.5:c.1096-103C>G
NM_000138.4:c.5789-103C>G , LRG_778t1:c.5789-103C>G	NP_000129.3:n.5789-103C>G
NM_000138.5:c.5789-103C>G MANE Select	NP_000129.3:n.5789-103C>G