Canonical Allele Identifier: CA016380

Gene: FBN1

Linked Data

• ClinVar Variation Id: 42400
• ClinVar RCV Id: RCV000035242 ; RCV001852715
• dbSNP Id: rs397515833
• MyVariant Identifiers: chr15:g.48729518C>T (hg19) ; chr15:g.48437321C>T (hg38)
• PubMed: PMID:18435798

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48437321C>T , CM000677.2:g.48437321C>T	GRCh38
NC_000015.9:g.48729518C>T , CM000677.1:g.48729518C>T	GRCh37
NC_000015.8:g.46516810C>T	NCBI36
NG_008805.2:g.213468G>A , LRG_778:g.213468G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6379+1G>A	ENSP00000453958.2:n.6379+1G>A
ENST00000674301.2:c.6379+1G>A	ENSP00000501333.2:n.6379+1G>A
ENST00000316623.10:c.6379+1G>A MANE Select	ENSP00000325527.5:n.6379+1G>A
ENST00000674301.1:c.1378+1G>A	ENSP00000501333.1:n.1378+1G>A
ENST00000316623.9:c.6379+1G>A	ENSP00000325527.5:n.6379+1G>A
ENST00000537463.6:c.*2142+1G>A	ENSP00000440294.2:n.*2142+1G>A
ENST00000559133.5:c.1686+1G>A
NM_000138.4:c.6379+1G>A , LRG_778t1:c.6379+1G>A	NP_000129.3:n.6379+1G>A
NM_000138.5:c.6379+1G>A MANE Select	NP_000129.3:n.6379+1G>A