Canonical Allele Identifier: CA012362

Gene: FBN1

Linked Data

• ClinVar Variation Id: 200030
• ClinVar RCV Id: RCV000017897 ; RCV000181502 ; RCV001389970
• dbSNP Id: rs794728213
• MyVariant Identifiers: chr15:g.48936802C>T (hg19) ; chr15:g.48644605C>T (hg38)
• PubMed: PMID:1569206

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48644605C>T , CM000677.2:g.48644605C>T	GRCh38
NC_000015.9:g.48936802C>T , CM000677.1:g.48936802C>T	GRCh37
NC_000015.8:g.46724094C>T	NCBI36
NG_008805.2:g.6184G>A , LRG_778:g.6184G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.164+1G>A	ENSP00000453958.2:n.164+1G>A
ENST00000674301.2:c.164+1G>A	ENSP00000501333.2:n.164+1G>A
ENST00000316623.10:c.164+1G>A MANE Select	ENSP00000325527.5:n.164+1G>A
ENST00000316623.9:c.164+1G>A	ENSP00000325527.5:n.164+1G>A
ENST00000537463.6:c.164+1G>A	ENSP00000440294.2:n.164+1G>A
ENST00000558230.1:n.227+1G>A
ENST00000560355.1:c.165G>A	ENSP00000453901.1:p.Gly55=
NM_000138.4:c.164+1G>A , LRG_778t1:c.164+1G>A	NP_000129.3:n.164+1G>A
NM_000138.5:c.164+1G>A MANE Select	NP_000129.3:n.164+1G>A