Canonical Allele Identifier: CA044189

Gene: FBN1

Linked Data

• ClinVar Variation Id: 406265
• ClinVar RCV Id: RCV000472023 ; RCV000659508 ; RCV001189403 ; RCV001810947 ; RCV004000729
• dbSNP Id: rs771134832
• ExAC: 15:48808418 G / A
• gnomAD v2: 15-48808418-G-A
• gnomAD v3: 15-48516221-G-A
• gnomAD v4: 15-48516221-G-A
• MyVariant Identifiers: chr15:g.48808418G>A (hg19) ; chr15:g.48516221G>A (hg38)
• PubMed: PMID:10504303 ; PMID:15039439 ; PMID:15955779 ; PMID:20979188

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48516221G>A , CM000677.2:g.48516221G>A	GRCh38
NC_000015.9:g.48808418G>A , CM000677.1:g.48808418G>A	GRCh37
NC_000015.8:g.46595710G>A	NCBI36
NG_008805.2:g.134568C>T , LRG_778:g.134568C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.1289C>T	ENSP00000453958.2:p.Pro430Leu
ENST00000674301.2:c.1289C>T	ENSP00000501333.2:p.Pro430Leu
ENST00000316623.10:c.1289C>T MANE Select	ENSP00000325527.5:p.Pro430Leu
ENST00000316623.9:c.1289C>T	ENSP00000325527.5:p.Pro430Leu
ENST00000537463.6:c.636+21490C>T	ENSP00000440294.2:n.636+21490C>T
NM_000138.4:c.1289C>T , LRG_778t1:c.1289C>T	NP_000129.3:p.Pro430Leu
NM_000138.5:c.1289C>T MANE Select	NP_000129.3:p.Pro430Leu