Canonical Allele Identifier: CA392340225

Gene: FBN1

Linked Data

• ClinVar Variation Id: 565697
• ClinVar RCV Id: RCV000685319
• dbSNP Id: rs794728240
• MyVariant Identifiers: chr15:g.48737689C>G (hg19) ; chr15:g.48445492C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48445492C>G , CM000677.2:g.48445492C>G	GRCh38
NC_000015.9:g.48737689C>G , CM000677.1:g.48737689C>G	GRCh37
NC_000015.8:g.46524981C>G	NCBI36
NG_008805.2:g.205297G>C , LRG_778:g.205297G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5801G>C	ENSP00000453958.2:p.Cys1934Ser
ENST00000674301.2:c.5801G>C	ENSP00000501333.2:p.Cys1934Ser
ENST00000684448.1:n.4475G>C
ENST00000316623.10:c.5801G>C MANE Select	ENSP00000325527.5:p.Cys1934Ser
ENST00000674301.1:c.800G>C	ENSP00000501333.1:p.Cys267Ser
ENST00000316623.9:c.5801G>C	ENSP00000325527.5:p.Cys1934Ser
ENST00000537463.6:c.*1564G>C	ENSP00000440294.2:n.*1564G>C
ENST00000559133.5:c.1108G>C
NM_000138.4:c.5801G>C , LRG_778t1:c.5801G>C	NP_000129.3:p.Cys1934Ser
NM_000138.5:c.5801G>C MANE Select	NP_000129.3:p.Cys1934Ser