Canonical Allele Identifier: CA392330900

Gene: FBN1

Linked Data

• ClinVar Variation Id: 684608
• ClinVar RCV Id: RCV000984075
• dbSNP Id: rs1480832655
• MyVariant Identifiers: chr15:g.48720655A>C (hg19) ; chr15:g.48428458A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428458A>C , CM000677.2:g.48428458A>C	GRCh38
NC_000015.9:g.48720655A>C , CM000677.1:g.48720655A>C	GRCh37
NC_000015.8:g.46507947A>C	NCBI36
NG_008805.2:g.222331T>G , LRG_778:g.222331T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6885T>G	ENSP00000453958.2:p.Cys2295Trp
ENST00000674301.2:c.*336T>G	ENSP00000501333.2:n.*336T>G
ENST00000682170.1:n.494T>G
ENST00000682767.1:n.120T>G
ENST00000316623.10:c.6885T>G MANE Select	ENSP00000325527.5:p.Cys2295Trp
ENST00000674301.1:c.1989T>G	ENSP00000501333.1:n.1989T>G
ENST00000316623.9:c.6885T>G	ENSP00000325527.5:p.Cys2295Trp
ENST00000559133.5:c.2192T>G
ENST00000560720.1:n.172T>G
NM_000138.4:c.6885T>G , LRG_778t1:c.6885T>G	NP_000129.3:p.Cys2295Trp
NM_000138.5:c.6885T>G MANE Select	NP_000129.3:p.Cys2295Trp