Canonical Allele Identifier: CA017244

Gene: FBN1

Linked Data

• ClinVar Variation Id: 200115
• ClinVar RCV Id: RCV000181605 ; RCV000663960 ; RCV000470534 ; RCV004539702
• dbSNP Id: rs794728272
• COSMIC: COSM361160
• MyVariant Identifiers: chr15:g.48714188A>G (hg19) ; chr15:g.48421991A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48421991A>G , CM000677.2:g.48421991A>G	GRCh38
NC_000015.9:g.48714188A>G , CM000677.1:g.48714188A>G	GRCh37
NC_000015.8:g.46501480A>G	NCBI36
NG_008805.2:g.228798T>C , LRG_778:g.228798T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*339T>C	ENSP00000453958.2:n.*339T>C
ENST00000674301.2:c.*1044T>C	ENSP00000501333.2:n.*1044T>C
ENST00000682170.1:n.1712T>C
ENST00000682767.1:n.828T>C
ENST00000316623.10:c.7531T>C MANE Select	ENSP00000325527.5:p.Cys2511Arg
ENST00000674301.1:c.2697T>C	ENSP00000501333.1:n.2697T>C
ENST00000316623.9:c.7531T>C	ENSP00000325527.5:p.Cys2511Arg
ENST00000559133.5:c.2900T>C
NM_000138.4:c.7531T>C , LRG_778t1:c.7531T>C	NP_000129.3:p.Cys2511Arg
NM_000138.5:c.7531T>C MANE Select	NP_000129.3:p.Cys2511Arg