Canonical Allele Identifier: CA392342244

Gene: FBN1

Linked Data

• ClinVar Variation Id: 1297021
• ClinVar RCV Id: RCV001724757
• dbSNP Id: rs2141252219
• MyVariant Identifiers: chr15:g.48741055T>G (hg19) ; chr15:g.48448858T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48448858T>G , CM000677.2:g.48448858T>G	GRCh38
NC_000015.9:g.48741055T>G , CM000677.1:g.48741055T>G	GRCh37
NC_000015.8:g.46528347T>G	NCBI36
NG_008805.2:g.201931A>C , LRG_778:g.201931A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5581A>C	ENSP00000453958.2:p.Ser1861Arg
ENST00000674301.2:c.5581A>C	ENSP00000501333.2:p.Ser1861Arg
ENST00000684448.1:n.4255A>C
ENST00000316623.10:c.5581A>C MANE Select	ENSP00000325527.5:p.Ser1861Arg
ENST00000674301.1:c.580A>C	ENSP00000501333.1:p.Ser194Arg
ENST00000316623.9:c.5581A>C	ENSP00000325527.5:p.Ser1861Arg
ENST00000537463.6:c.*1344A>C	ENSP00000440294.2:n.*1344A>C
ENST00000559133.5:c.888A>C
NM_000138.4:c.5581A>C , LRG_778t1:c.5581A>C	NP_000129.3:p.Ser1861Arg
NM_000138.5:c.5581A>C MANE Select	NP_000129.3:p.Ser1861Arg