Canonical Allele Identifier: CA050201

Gene: FBN1

Linked Data

• ClinVar Variation Id: 406367
• ClinVar RCV Id: RCV000520471 ; RCV000465841 ; RCV001187622 ; RCV002480367 ; RCV004000737
• dbSNP Id: rs201156527
• ExAC: 15:48780421 T / G
• gnomAD v2: 15-48780421-T-G
• gnomAD v3: 15-48488224-T-G
• gnomAD v4: 15-48488224-T-G
• MyVariant Identifiers: chr15:g.48780421T>G (hg19) ; chr15:g.48488224T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48488224T>G , CM000677.2:g.48488224T>G	GRCh38
NC_000015.9:g.48780421T>G , CM000677.1:g.48780421T>G	GRCh37
NC_000015.8:g.46567713T>G	NCBI36
NG_008805.2:g.162565A>C , LRG_778:g.162565A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3226A>C	ENSP00000453958.2:p.Ile1076Leu
ENST00000674301.2:c.3226A>C	ENSP00000501333.2:p.Ile1076Leu
ENST00000684448.1:n.1900A>C
ENST00000316623.10:c.3226A>C MANE Select	ENSP00000325527.5:p.Ile1076Leu
ENST00000316623.9:c.3226A>C	ENSP00000325527.5:p.Ile1076Leu
ENST00000537463.6:c.637-13574A>C	ENSP00000440294.2:n.637-13574A>C
NM_000138.4:c.3226A>C , LRG_778t1:c.3226A>C	NP_000129.3:p.Ile1076Leu
NM_000138.5:c.3226A>C MANE Select	NP_000129.3:p.Ile1076Leu