Canonical Allele Identifier: CA969551210

Gene: FBN1

Linked Data

• dbSNP Id: rs2043180274
• gnomAD v3: 15-48448971-C-G
• gnomAD v4: 15-48448971-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48448971C>G , CM000677.2:g.48448971C>G	GRCh38
NC_000015.9:g.48741168C>G , CM000677.1:g.48741168C>G	GRCh37
NC_000015.8:g.46528460C>G	NCBI36
NG_008805.2:g.201818G>C , LRG_778:g.201818G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5546-78G>C	ENSP00000453958.2:n.5546-78G>C
ENST00000674301.2:c.5546-78G>C	ENSP00000501333.2:n.5546-78G>C
ENST00000684448.1:n.4220-78G>C
ENST00000316623.10:c.5546-78G>C MANE Select	ENSP00000325527.5:n.5546-78G>C
ENST00000674301.1:c.545-78G>C	ENSP00000501333.1:n.545-78G>C
ENST00000316623.9:c.5546-78G>C	ENSP00000325527.5:n.5546-78G>C
ENST00000537463.6:c.*1309-78G>C	ENSP00000440294.2:n.*1309-78G>C
ENST00000559133.5:c.853-78G>C
NM_000138.4:c.5546-78G>C , LRG_778t1:c.5546-78G>C	NP_000129.3:n.5546-78G>C
NM_000138.5:c.5546-78G>C MANE Select	NP_000129.3:n.5546-78G>C