Canonical Allele Identifier: CA392321605

Gene: FBN1

Linked Data

• ClinVar Variation Id: 549453
• ClinVar RCV Id: RCV000664010
• dbSNP Id: rs747476726
• MyVariant Identifiers: chr15:g.48704923A>G (hg19) ; chr15:g.48412726A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48412726A>G , CM000677.2:g.48412726A>G	GRCh38
NC_000015.9:g.48704923A>G , CM000677.1:g.48704923A>G	GRCh37
NC_000015.8:g.46492215A>G	NCBI36
NG_008805.2:g.238063T>C , LRG_778:g.238063T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*877T>C	ENSP00000453958.2:n.*877T>C
ENST00000674301.2:c.*1582T>C	ENSP00000501333.2:n.*1582T>C
ENST00000682158.1:n.1450T>C
ENST00000682170.1:n.2250T>C
ENST00000682767.1:n.1366T>C
ENST00000316623.10:c.8069T>C MANE Select	ENSP00000325527.5:p.Met2690Thr
ENST00000674301.1:c.3235T>C	ENSP00000501333.1:n.3235T>C
ENST00000316623.9:c.8069T>C	ENSP00000325527.5:p.Met2690Thr
ENST00000559133.5:c.3438T>C
ENST00000561429.1:n.324T>C
NM_000138.4:c.8069T>C , LRG_778t1:c.8069T>C	NP_000129.3:p.Met2690Thr
NM_000138.5:c.8069T>C MANE Select	NP_000129.3:p.Met2690Thr