Canonical Allele Identifier: CA392342417

Gene: FBN1

Linked Data

• ClinVar Variation Id: 1447064
• ClinVar RCV Id: RCV001988073 ; RCV002280197 ; RCV002484760
• dbSNP Id: rs2141252254
• MyVariant Identifiers: chr15:g.48741070T>C (hg19) ; chr15:g.48448873T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48448873T>C , CM000677.2:g.48448873T>C	GRCh38
NC_000015.9:g.48741070T>C , CM000677.1:g.48741070T>C	GRCh37
NC_000015.8:g.46528362T>C	NCBI36
NG_008805.2:g.201916A>G , LRG_778:g.201916A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5566A>G	ENSP00000453958.2:p.Ile1856Val
ENST00000674301.2:c.5566A>G	ENSP00000501333.2:p.Ile1856Val
ENST00000684448.1:n.4240A>G
ENST00000316623.10:c.5566A>G MANE Select	ENSP00000325527.5:p.Ile1856Val
ENST00000674301.1:c.565A>G	ENSP00000501333.1:p.Ile189Val
ENST00000316623.9:c.5566A>G	ENSP00000325527.5:p.Ile1856Val
ENST00000537463.6:c.*1329A>G	ENSP00000440294.2:n.*1329A>G
ENST00000559133.5:c.873A>G
NM_000138.4:c.5566A>G , LRG_778t1:c.5566A>G	NP_000129.3:p.Ile1856Val
NM_000138.5:c.5566A>G MANE Select	NP_000129.3:p.Ile1856Val