Canonical Allele Identifier: CA10587787

Gene: FBN1

Linked Data

• ClinVar Variation Id: 263642
• ClinVar RCV Id: RCV000493369 ; RCV000532950 ; RCV002310850
• dbSNP Id: rs886038869
• MyVariant Identifiers: chr15:g.48707778C>A (hg19) ; chr15:g.48415581C>A (hg38)
• PubMed: PMID:19293843 ; PMID:25652356

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48415581C>A , CM000677.2:g.48415581C>A	GRCh38
NC_000015.9:g.48707778C>A , CM000677.1:g.48707778C>A	GRCh37
NC_000015.8:g.46495070C>A	NCBI36
NG_008805.2:g.235208G>T , LRG_778:g.235208G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*814G>T	ENSP00000453958.2:n.*814G>T
ENST00000674301.2:c.*1519G>T	ENSP00000501333.2:n.*1519G>T
ENST00000682158.1:n.1387G>T
ENST00000682170.1:n.2187G>T
ENST00000682767.1:n.1303G>T
ENST00000316623.10:c.8006G>T MANE Select	ENSP00000325527.5:p.Gly2669Val
ENST00000674301.1:c.3172G>T	ENSP00000501333.1:n.3172G>T
ENST00000316623.9:c.8006G>T	ENSP00000325527.5:p.Gly2669Val
ENST00000559133.5:c.3375G>T
ENST00000561429.1:n.261G>T
NM_000138.4:c.8006G>T , LRG_778t1:c.8006G>T	NP_000129.3:p.Gly2669Val
NM_000138.5:c.8006G>T MANE Select	NP_000129.3:p.Gly2669Val