Canonical Allele Identifier: CA392320199

Gene: FBN1

Linked Data

• ClinVar Variation Id: 921320
• ClinVar RCV Id: RCV001180668
• dbSNP Id: rs2042862302
• MyVariant Identifiers: chr15:g.48703567C>T (hg19) ; chr15:g.48411370C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411370C>T , CM000677.2:g.48411370C>T	GRCh38
NC_000015.9:g.48703567C>T , CM000677.1:g.48703567C>T	GRCh37
NC_000015.8:g.46490859C>T	NCBI36
NG_008805.2:g.239419G>A , LRG_778:g.239419G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1044G>A	ENSP00000453958.2:n.*1044G>A
ENST00000674301.2:c.*1749G>A	ENSP00000501333.2:n.*1749G>A
ENST00000682158.1:n.1617G>A
ENST00000682170.1:n.2417G>A
ENST00000682767.1:n.1533G>A
ENST00000316623.10:c.8236G>A MANE Select	ENSP00000325527.5:p.Glu2746Lys
ENST00000674301.1:c.3402G>A	ENSP00000501333.1:n.3402G>A
ENST00000316623.9:c.8236G>A	ENSP00000325527.5:p.Glu2746Lys
ENST00000559133.5:c.3605G>A
ENST00000561429.1:n.491G>A
NM_000138.4:c.8236G>A , LRG_778t1:c.8236G>A	NP_000129.3:p.Glu2746Lys
NM_000138.5:c.8236G>A MANE Select	NP_000129.3:p.Glu2746Lys