Canonical Allele Identifier: CA16616744

Gene: FBN1

Linked Data

• ClinVar Variation Id: 803090
• ClinVar RCV Id: RCV002549725
• dbSNP Id: rs397515799
• MyVariant Identifiers: chr15:g.48766764A>G (hg19) ; chr15:g.48474567A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48474567A>G , CM000677.2:g.48474567A>G	GRCh38
NC_000015.9:g.48766764A>G , CM000677.1:g.48766764A>G	GRCh37
NC_000015.8:g.46554056A>G	NCBI36
NG_008805.2:g.176222T>C , LRG_778:g.176222T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.4048T>C	ENSP00000453958.2:p.Cys1350Arg
ENST00000674301.2:c.4048T>C	ENSP00000501333.2:p.Cys1350Arg
ENST00000684448.1:n.2722T>C
ENST00000316623.10:c.4048T>C MANE Select	ENSP00000325527.5:p.Cys1350Arg
ENST00000316623.9:c.4048T>C	ENSP00000325527.5:p.Cys1350Arg
ENST00000537463.6:c.720T>C	ENSP00000440294.2:p.Ala240=
NM_000138.4:c.4048T>C , LRG_778t1:c.4048T>C	NP_000129.3:p.Cys1350Arg
NM_000138.5:c.4048T>C MANE Select	NP_000129.3:p.Cys1350Arg