Canonical Allele Identifier: CA392334742

Gene: FBN1

Linked Data

• ClinVar Variation Id: 919296
• ClinVar RCV Id: RCV001177396 ; RCV001875846 ; RCV002483965
• dbSNP Id: rs763165301
• MyVariant Identifiers: chr15:g.48726817T>G (hg19) ; chr15:g.48434620T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48434620T>G , CM000677.2:g.48434620T>G	GRCh38
NC_000015.9:g.48726817T>G , CM000677.1:g.48726817T>G	GRCh37
NC_000015.8:g.46514109T>G	NCBI36
NG_008805.2:g.216169A>C , LRG_778:g.216169A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6590A>C	ENSP00000453958.2:p.Glu2197Ala
ENST00000674301.2:c.6590A>C	ENSP00000501333.2:p.Glu2197Ala
ENST00000682170.1:n.199A>C
ENST00000316623.10:c.6590A>C MANE Select	ENSP00000325527.5:p.Glu2197Ala
ENST00000674301.1:c.1589A>C	ENSP00000501333.1:p.Glu530Ala
ENST00000316623.9:c.6590A>C	ENSP00000325527.5:p.Glu2197Ala
ENST00000537463.6:c.*2353A>C	ENSP00000440294.2:n.*2353A>C
ENST00000559133.5:c.1897A>C
NM_000138.4:c.6590A>C , LRG_778t1:c.6590A>C	NP_000129.3:p.Glu2197Ala
NM_000138.5:c.6590A>C MANE Select	NP_000129.3:p.Glu2197Ala