Canonical Allele Identifier: CA392332416

Gene: FBN1

Linked Data

• ClinVar Variation Id: 457252
• ClinVar RCV Id: RCV000527434 ; RCV000590209 ; RCV002245996
• dbSNP Id: rs886051245
• MyVariant Identifiers: chr15:g.48722938G>C (hg19) ; chr15:g.48430741G>C (hg38)
• PubMed: PMID:25907466 ; PMID:27527004

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48430741G>C , CM000677.2:g.48430741G>C	GRCh38
NC_000015.9:g.48722938G>C , CM000677.1:g.48722938G>C	GRCh37
NC_000015.8:g.46510230G>C	NCBI36
NG_008805.2:g.220048C>G , LRG_778:g.220048C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6801C>G	ENSP00000453958.2:p.Asn2267Lys
ENST00000674301.2:c.*252C>G	ENSP00000501333.2:n.*252C>G
ENST00000682170.1:n.410C>G
ENST00000316623.10:c.6801C>G MANE Select	ENSP00000325527.5:p.Asn2267Lys
ENST00000674301.1:c.1905C>G	ENSP00000501333.1:n.1905C>G
ENST00000316623.9:c.6801C>G	ENSP00000325527.5:p.Asn2267Lys
ENST00000559133.5:c.2108C>G
ENST00000560720.1:n.88C>G
NM_000138.4:c.6801C>G , LRG_778t1:c.6801C>G	NP_000129.3:p.Asn2267Lys
NM_000138.5:c.6801C>G MANE Select	NP_000129.3:p.Asn2267Lys