Canonical Allele Identifier: CA392338256

Gene: FBN1

Linked Data

• ClinVar Variation Id: 997890
• ClinVar RCV Id: RCV001293525
• dbSNP Id: rs2043116963
• MyVariant Identifiers: chr15:g.48733975A>G (hg19) ; chr15:g.48441778A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48441778A>G , CM000677.2:g.48441778A>G	GRCh38
NC_000015.9:g.48733975A>G , CM000677.1:g.48733975A>G	GRCh37
NC_000015.8:g.46521267A>G	NCBI36
NG_008805.2:g.209011T>C , LRG_778:g.209011T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.6106T>C	ENSP00000453958.2:p.Phe2036Leu
ENST00000674301.2:c.6106T>C	ENSP00000501333.2:p.Phe2036Leu
ENST00000316623.10:c.6106T>C MANE Select	ENSP00000325527.5:p.Phe2036Leu
ENST00000674301.1:c.1105T>C	ENSP00000501333.1:p.Phe369Leu
ENST00000316623.9:c.6106T>C	ENSP00000325527.5:p.Phe2036Leu
ENST00000537463.6:c.*1869T>C	ENSP00000440294.2:n.*1869T>C
ENST00000559133.5:c.1413T>C
ENST00000560820.1:n.226T>C
NM_000138.4:c.6106T>C , LRG_778t1:c.6106T>C	NP_000129.3:p.Phe2036Leu
NM_000138.5:c.6106T>C MANE Select	NP_000129.3:p.Phe2036Leu