Canonical Allele Identifier: CA016311

Gene: FBN1

Linked Data

• ClinVar Variation Id: 200079
• ClinVar RCV Id: RCV000181562 ; RCV003227467
• dbSNP Id: rs794728246
• MyVariant Identifiers: chr15:g.48730004A>G (hg19) ; chr15:g.48437807A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48437807A>G , CM000677.2:g.48437807A>G	GRCh38
NC_000015.9:g.48730004A>G , CM000677.1:g.48730004A>G	GRCh37
NC_000015.8:g.46517296A>G	NCBI36
NG_008805.2:g.212982T>C , LRG_778:g.212982T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6274T>C	ENSP00000453958.2:p.Trp2092Arg
ENST00000674301.2:c.6274T>C	ENSP00000501333.2:p.Trp2092Arg
ENST00000316623.10:c.6274T>C MANE Select	ENSP00000325527.5:p.Trp2092Arg
ENST00000674301.1:c.1273T>C	ENSP00000501333.1:p.Trp425Arg
ENST00000316623.9:c.6274T>C	ENSP00000325527.5:p.Trp2092Arg
ENST00000537463.6:c.*2037T>C	ENSP00000440294.2:n.*2037T>C
ENST00000559133.5:c.1581T>C
ENST00000560820.1:n.394T>C
NM_000138.4:c.6274T>C , LRG_778t1:c.6274T>C	NP_000129.3:p.Trp2092Arg
NM_000138.5:c.6274T>C MANE Select	NP_000129.3:p.Trp2092Arg