Canonical Allele Identifier: CA012036

Gene: FBN1

Linked Data

• ClinVar Variation Id: 200178
• ClinVar RCV Id: RCV000590466 ; RCV000855644 ; RCV001079545 ; RCV001182507
• dbSNP Id: rs139968089
• ExAC: 15:48808442 C / T
• gnomAD v2: 15-48808442-C-T
• gnomAD v3: 15-48516245-C-T
• gnomAD v4: 15-48516245-C-T
• MyVariant Identifiers: chr15:g.48808442C>T (hg19) ; chr15:g.48516245C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48516245C>T , CM000677.2:g.48516245C>T	GRCh38
NC_000015.9:g.48808442C>T , CM000677.1:g.48808442C>T	GRCh37
NC_000015.8:g.46595734C>T	NCBI36
NG_008805.2:g.134544G>A , LRG_778:g.134544G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.1265G>A	ENSP00000453958.2:p.Gly422Glu
ENST00000674301.2:c.1265G>A	ENSP00000501333.2:p.Gly422Glu
ENST00000316623.10:c.1265G>A MANE Select	ENSP00000325527.5:p.Gly422Glu
ENST00000316623.9:c.1265G>A	ENSP00000325527.5:p.Gly422Glu
ENST00000537463.6:c.636+21466G>A	ENSP00000440294.2:n.636+21466G>A
NM_000138.4:c.1265G>A , LRG_778t1:c.1265G>A	NP_000129.3:p.Gly422Glu
NM_000138.5:c.1265G>A MANE Select	NP_000129.3:p.Gly422Glu