Canonical Allele Identifier: CA016901

Gene: FBN1

Linked Data

• ClinVar Variation Id: 163464
• ClinVar RCV Id: RCV000150697 ; RCV000232266
• dbSNP Id: rs727503055
• MyVariant Identifiers: chr15:g.48720539T>C (hg19) ; chr15:g.48428342T>C (hg38)
• PubMed: PMID:24793577

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428342T>C , CM000677.2:g.48428342T>C	GRCh38
NC_000015.9:g.48720539T>C , CM000677.1:g.48720539T>C	GRCh37
NC_000015.8:g.46507831T>C	NCBI36
NG_008805.2:g.222447A>G , LRG_778:g.222447A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.6997+4A>G	ENSP00000453958.2:n.6997+4A>G
ENST00000674301.2:c.*448+4A>G	ENSP00000501333.2:n.*448+4A>G
ENST00000682170.1:n.610A>G
ENST00000682767.1:n.232+4A>G
ENST00000316623.10:c.6997+4A>G MANE Select	ENSP00000325527.5:n.6997+4A>G
ENST00000674301.1:c.2101+4A>G	ENSP00000501333.1:n.2101+4A>G
ENST00000316623.9:c.6997+4A>G	ENSP00000325527.5:n.6997+4A>G
ENST00000559133.5:c.2304+4A>G
ENST00000560720.1:n.288A>G
NM_000138.4:c.6997+4A>G , LRG_778t1:c.6997+4A>G	NP_000129.3:n.6997+4A>G
NM_000138.5:c.6997+4A>G MANE Select	NP_000129.3:n.6997+4A>G