Canonical Allele Identifier: CA017155

Gene: FBN1

Linked Data

• ClinVar Variation Id: 16437
• ClinVar RCV Id: RCV000017899 ; RCV000422790 ; RCV000695313 ; RCV002381253 ; RCV000417099 ; RCV000844887
• dbSNP Id: rs137854464
• gnomAD v2: 15-48717680-C-T
• gnomAD v3: 15-48425483-C-T
• gnomAD v4: 15-48425483-C-T
• COSMIC: COSM5890845
• MyVariant Identifiers: chr15:g.48717680C>T (hg19) ; chr15:g.48425483C>T (hg38)
• PubMed: PMID:8136837 ; PMID:8188302 ; PMID:17657824

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48425483C>T , CM000677.2:g.48425483C>T	GRCh38
NC_000015.9:g.48717680C>T , CM000677.1:g.48717680C>T	GRCh37
NC_000015.8:g.46504972C>T	NCBI36
NG_008805.2:g.225306G>A , LRG_778:g.225306G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*147G>A	ENSP00000453958.2:n.*147G>A
ENST00000674301.2:c.*852G>A	ENSP00000501333.2:n.*852G>A
ENST00000682170.1:n.1520G>A
ENST00000682767.1:n.636G>A
ENST00000316623.10:c.7339G>A MANE Select	ENSP00000325527.5:p.Glu2447Lys
ENST00000674301.1:c.2505G>A	ENSP00000501333.1:n.2505G>A
ENST00000316623.9:c.7339G>A	ENSP00000325527.5:p.Glu2447Lys
ENST00000559133.5:c.2708G>A
NM_000138.4:c.7339G>A , LRG_778t1:c.7339G>A	NP_000129.3:p.Glu2447Lys
NM_000138.5:c.7339G>A MANE Select	NP_000129.3:p.Glu2447Lys