Canonical Allele Identifier: CA013064

Gene: FBN1

Linked Data

• ClinVar Variation Id: 199997
• ClinVar RCV Id: RCV000181461 ; RCV000663541 ; RCV000778031 ; RCV001852278 ; RCV002503704 ; RCV003993865
• dbSNP Id: rs201778577
• ExAC: 15:48787771 C / T
• gnomAD v2: 15-48787771-C-T
• gnomAD v3: 15-48495574-C-T
• gnomAD v4: 15-48495574-C-T
• MyVariant Identifiers: chr15:g.48787771C>T (hg19) ; chr15:g.48495574C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48495574C>T , CM000677.2:g.48495574C>T	GRCh38
NC_000015.9:g.48787771C>T , CM000677.1:g.48787771C>T	GRCh37
NC_000015.8:g.46575063C>T	NCBI36
NG_008805.2:g.155215G>A , LRG_778:g.155215G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.2434G>A	ENSP00000453958.2:p.Glu812Lys
ENST00000674301.2:c.2434G>A	ENSP00000501333.2:p.Glu812Lys
ENST00000684448.1:n.1108G>A
ENST00000316623.10:c.2434G>A MANE Select	ENSP00000325527.5:p.Glu812Lys
ENST00000316623.9:c.2434G>A	ENSP00000325527.5:p.Glu812Lys
ENST00000537463.6:c.637-20924G>A	ENSP00000440294.2:n.637-20924G>A
NM_000138.4:c.2434G>A , LRG_778t1:c.2434G>A	NP_000129.3:p.Glu812Lys
NM_000138.5:c.2434G>A MANE Select	NP_000129.3:p.Glu812Lys