Canonical Allele Identifier: CA017125

Gene: FBN1

Linked Data

• ClinVar Variation Id: 161234
• ClinVar RCV Id: RCV000148488 ; RCV000530970 ; RCV000995333 ; RCV001117026 ; RCV001117027 ; RCV001115601 ; RCV001115603 ; RCV001115602 ; RCV002483288
• dbSNP Id: rs143863014
• ExAC: 15:48718025 C / T
• gnomAD v2: 15-48718025-C-T
• gnomAD v3: 15-48425828-C-T
• gnomAD v4: 15-48425828-C-T
• COSMIC: COSM962363
• MyVariant Identifiers: chr15:g.48718025C>T (hg19) ; chr15:g.48425828C>T (hg38)
• PubMed: PMID:16835936 ; PMID:24941995

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48425828C>T , CM000677.2:g.48425828C>T	GRCh38
NC_000015.9:g.48718025C>T , CM000677.1:g.48718025C>T	GRCh37
NC_000015.8:g.46505317C>T	NCBI36
NG_008805.2:g.224961G>A , LRG_778:g.224961G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*49G>A	ENSP00000453958.2:n.*49G>A
ENST00000674301.2:c.*754G>A	ENSP00000501333.2:n.*754G>A
ENST00000682170.1:n.1422G>A
ENST00000682767.1:n.538G>A
ENST00000316623.10:c.7241G>A MANE Select	ENSP00000325527.5:p.Arg2414Gln
ENST00000674301.1:c.2407G>A	ENSP00000501333.1:n.2407G>A
ENST00000316623.9:c.7241G>A	ENSP00000325527.5:p.Arg2414Gln
ENST00000559133.5:c.2610G>A
NM_000138.4:c.7241G>A , LRG_778t1:c.7241G>A	NP_000129.3:p.Arg2414Gln
NM_000138.5:c.7241G>A MANE Select	NP_000129.3:p.Arg2414Gln