Canonical Allele Identifier: CA392322717

Gene: FBN1

Linked Data

• ClinVar Variation Id: 457266
• ClinVar RCV Id: RCV000541047
• dbSNP Id: rs149062442
• MyVariant Identifiers: chr15:g.48707785C>A (hg19) ; chr15:g.48415588C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48415588C>A , CM000677.2:g.48415588C>A	GRCh38
NC_000015.9:g.48707785C>A , CM000677.1:g.48707785C>A	GRCh37
NC_000015.8:g.46495077C>A	NCBI36
NG_008805.2:g.235201G>T , LRG_778:g.235201G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*807G>T	ENSP00000453958.2:n.*807G>T
ENST00000674301.2:c.*1512G>T	ENSP00000501333.2:n.*1512G>T
ENST00000682158.1:n.1380G>T
ENST00000682170.1:n.2180G>T
ENST00000682767.1:n.1296G>T
ENST00000316623.10:c.7999G>T MANE Select	ENSP00000325527.5:p.Glu2667Ter
ENST00000674301.1:c.3165G>T	ENSP00000501333.1:n.3165G>T
ENST00000316623.9:c.7999G>T	ENSP00000325527.5:p.Glu2667Ter
ENST00000559133.5:c.3368G>T
ENST00000561429.1:n.254G>T
NM_000138.4:c.7999G>T , LRG_778t1:c.7999G>T	NP_000129.3:p.Glu2667Ter
NM_000138.5:c.7999G>T MANE Select	NP_000129.3:p.Glu2667Ter