Canonical Allele Identifier: CA392341877

Gene: FBN1

Linked Data

• ClinVar Variation Id: 520499
• ClinVar RCV Id: RCV000623517 ; RCV000659555 ; RCV002343175
• dbSNP Id: rs1555395980
• MyVariant Identifiers: chr15:g.48741010A>G (hg19) ; chr15:g.48448813A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48448813A>G , CM000677.2:g.48448813A>G	GRCh38
NC_000015.9:g.48741010A>G , CM000677.1:g.48741010A>G	GRCh37
NC_000015.8:g.46528302A>G	NCBI36
NG_008805.2:g.201976T>C , LRG_778:g.201976T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5626T>C	ENSP00000453958.2:p.Cys1876Arg
ENST00000674301.2:c.5626T>C	ENSP00000501333.2:p.Cys1876Arg
ENST00000684448.1:n.4300T>C
ENST00000316623.10:c.5626T>C MANE Select	ENSP00000325527.5:p.Cys1876Arg
ENST00000674301.1:c.625T>C	ENSP00000501333.1:p.Cys209Arg
ENST00000316623.9:c.5626T>C	ENSP00000325527.5:p.Cys1876Arg
ENST00000537463.6:c.*1389T>C	ENSP00000440294.2:n.*1389T>C
ENST00000559133.5:c.933T>C
NM_000138.4:c.5626T>C , LRG_778t1:c.5626T>C	NP_000129.3:p.Cys1876Arg
NM_000138.5:c.5626T>C MANE Select	NP_000129.3:p.Cys1876Arg