Canonical Allele Identifier: CA014253

Gene: FBN1

Linked Data

• ClinVar Variation Id: 200144
• ClinVar RCV Id: RCV000181646 ; RCV001181847 ; RCV002492803 ; RCV003996702 ; RCV001236065
• dbSNP Id: rs765503809
• ExAC: 15:48892425 T / C
• gnomAD v2: 15-48892425-T-C
• gnomAD v3: 15-48600228-T-C
• gnomAD v4: 15-48600228-T-C
• MyVariant Identifiers: chr15:g.48892425T>C (hg19) ; chr15:g.48600228T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48600228T>C , CM000677.2:g.48600228T>C	GRCh38
NC_000015.9:g.48892425T>C , CM000677.1:g.48892425T>C	GRCh37
NC_000015.8:g.46679717T>C	NCBI36
NG_008805.2:g.50561A>G , LRG_778:g.50561A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.353A>G	ENSP00000453958.2:p.His118Arg
ENST00000674301.2:c.353A>G	ENSP00000501333.2:p.His118Arg
ENST00000316623.10:c.353A>G MANE Select	ENSP00000325527.5:p.His118Arg
ENST00000316623.9:c.353A>G	ENSP00000325527.5:p.His118Arg
ENST00000537463.6:c.353A>G	ENSP00000440294.2:p.His118Arg
NM_000138.4:c.353A>G , LRG_778t1:c.353A>G	NP_000129.3:p.His118Arg
NM_000138.5:c.353A>G MANE Select	NP_000129.3:p.His118Arg