Canonical Allele Identifier: CA011866

Gene: FBN1

Linked Data

• ClinVar Variation Id: 161244
• ClinVar RCV Id: RCV000148500 ; RCV000181421 ; RCV000284823 ; RCV000315057 ; RCV000364336 ; RCV000393539 ; RCV000307377 ; RCV000463596 ; RCV000393542 ; RCV000659507 ; RCV000588674
• dbSNP Id: rs146726731
• ExAC: 15:48812976 C / T
• gnomAD v2: 15-48812976-C-T
• gnomAD v3: 15-48520779-C-T
• gnomAD v4: 15-48520779-C-T
• MyVariant Identifiers: chr15:g.48812976C>T (hg19) ; chr15:g.48520779C>T (hg38)
• PubMed: PMID:17253931 ; PMID:17663468 ; PMID:24311428 ; PMID:24941995 ; PMID:25637381 ; PMID:25812041 ; PMID:26332594 ; PMID:26684006

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48520779C>T , CM000677.2:g.48520779C>T	GRCh38
NC_000015.9:g.48812976C>T , CM000677.1:g.48812976C>T	GRCh37
NC_000015.8:g.46600268C>T	NCBI36
NG_008805.2:g.130010G>A , LRG_778:g.130010G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.1027G>A	ENSP00000453958.2:p.Gly343Arg
ENST00000674301.2:c.1027G>A	ENSP00000501333.2:p.Gly343Arg
ENST00000316623.10:c.1027G>A MANE Select	ENSP00000325527.5:p.Gly343Arg
ENST00000316623.9:c.1027G>A	ENSP00000325527.5:p.Gly343Arg
ENST00000537463.6:c.636+16932G>A	ENSP00000440294.2:n.636+16932G>A
NM_000138.4:c.1027G>A , LRG_778t1:c.1027G>A	NP_000129.3:p.Gly343Arg
NM_000138.5:c.1027G>A MANE Select	NP_000129.3:p.Gly343Arg