Canonical Allele Identifier: CA013794

Gene: FBN1

Linked Data

• ClinVar Variation Id: 16446
• ClinVar RCV Id: RCV000017909 ; RCV002321486 ; RCV003764584
• dbSNP Id: rs137854472
• ExAC: 15:48780645 T / C
• gnomAD v2: 15-48780645-T-C
• gnomAD v4: 15-48488448-T-C
• MyVariant Identifiers: chr15:g.48780645T>C (hg19) ; chr15:g.48488448T>C (hg38)
• PubMed: PMID:9101298

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48488448T>C , CM000677.2:g.48488448T>C	GRCh38
NC_000015.9:g.48780645T>C , CM000677.1:g.48780645T>C	GRCh37
NC_000015.8:g.46567937T>C	NCBI36
NG_008805.2:g.162341A>G , LRG_778:g.162341A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3128A>G	ENSP00000453958.2:p.Lys1043Arg
ENST00000674301.2:c.3128A>G	ENSP00000501333.2:p.Lys1043Arg
ENST00000684448.1:n.1802A>G
ENST00000316623.10:c.3128A>G MANE Select	ENSP00000325527.5:p.Lys1043Arg
ENST00000316623.9:c.3128A>G	ENSP00000325527.5:p.Lys1043Arg
ENST00000537463.6:c.637-13798A>G	ENSP00000440294.2:n.637-13798A>G
NM_000138.4:c.3128A>G , LRG_778t1:c.3128A>G	NP_000129.3:p.Lys1043Arg
NM_000138.5:c.3128A>G MANE Select	NP_000129.3:p.Lys1043Arg