Canonical Allele Identifier: CA269527257

Gene: FBN1

Linked Data

• ClinVar Variation Id: 1325413
• ClinVar RCV Id: RCV002246026
• dbSNP Id: rs112025387
• COSMIC: COSM1206712
• MyVariant Identifiers: chr15:g.48777693T>C (hg19) ; chr15:g.48485496T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48485496T>C , CM000677.2:g.48485496T>C	GRCh38
NC_000015.9:g.48777693T>C , CM000677.1:g.48777693T>C	GRCh37
NC_000015.8:g.46564985T>C	NCBI36
NG_008805.2:g.165293A>G , LRG_778:g.165293A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3590A>G	ENSP00000453958.2:p.Asp1197Gly
ENST00000674301.2:c.3590A>G	ENSP00000501333.2:p.Asp1197Gly
ENST00000684448.1:n.2264A>G
ENST00000316623.10:c.3590A>G MANE Select	ENSP00000325527.5:p.Asp1197Gly
ENST00000316623.9:c.3590A>G	ENSP00000325527.5:p.Asp1197Gly
ENST00000537463.6:c.637-10846A>G	ENSP00000440294.2:n.637-10846A>G
NM_000138.4:c.3590A>G , LRG_778t1:c.3590A>G	NP_000129.3:p.Asp1197Gly
NM_000138.5:c.3590A>G MANE Select	NP_000129.3:p.Asp1197Gly