Canonical Allele Identifier: CA051513

Gene: FBN1

Linked Data

• ClinVar Variation Id: 406297
• ClinVar RCV Id: RCV000464833 ; RCV001181137 ; RCV002481397 ; RCV004000731
• dbSNP Id: rs371103773
• ExAC: 15:48776068 C / T
• gnomAD v2: 15-48776068-C-T
• gnomAD v3: 15-48483871-C-T
• gnomAD v4: 15-48483871-C-T
• MyVariant Identifiers: chr15:g.48776068C>T (hg19) ; chr15:g.48483871C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48483871C>T , CM000677.2:g.48483871C>T	GRCh38
NC_000015.9:g.48776068C>T , CM000677.1:g.48776068C>T	GRCh37
NC_000015.8:g.46563360C>T	NCBI36
NG_008805.2:g.166918G>A , LRG_778:g.166918G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3785G>A	ENSP00000453958.2:p.Arg1262Lys
ENST00000674301.2:c.3785G>A	ENSP00000501333.2:p.Arg1262Lys
ENST00000684448.1:n.2459G>A
ENST00000316623.10:c.3785G>A MANE Select	ENSP00000325527.5:p.Arg1262Lys
ENST00000316623.9:c.3785G>A	ENSP00000325527.5:p.Arg1262Lys
ENST00000537463.6:c.637-9221G>A	ENSP00000440294.2:n.637-9221G>A
NM_000138.4:c.3785G>A , LRG_778t1:c.3785G>A	NP_000129.3:p.Arg1262Lys
NM_000138.5:c.3785G>A MANE Select	NP_000129.3:p.Arg1262Lys