Canonical Allele Identifier: CA16614391

Gene: FBN1

Linked Data

• ClinVar Variation Id: 406331
• ClinVar RCV Id: RCV001383706
• dbSNP Id: rs141133182
• MyVariant Identifiers: chr15:g.48707932C>A (hg19) ; chr15:g.48415735C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48415735C>A , CM000677.2:g.48415735C>A	GRCh38
NC_000015.9:g.48707932C>A , CM000677.1:g.48707932C>A	GRCh37
NC_000015.8:g.46495224C>A	NCBI36
NG_008805.2:g.235054G>T , LRG_778:g.235054G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*660G>T	ENSP00000453958.2:n.*660G>T
ENST00000674301.2:c.*1365G>T	ENSP00000501333.2:n.*1365G>T
ENST00000682158.1:n.1233G>T
ENST00000682170.1:n.2033G>T
ENST00000682767.1:n.1149G>T
ENST00000316623.10:c.7852G>T MANE Select	ENSP00000325527.5:p.Gly2618Ter
ENST00000674301.1:c.3018G>T	ENSP00000501333.1:n.3018G>T
ENST00000316623.9:c.7852G>T	ENSP00000325527.5:p.Gly2618Ter
ENST00000559133.5:c.3221G>T
ENST00000561429.1:n.107G>T
NM_000138.4:c.7852G>T , LRG_778t1:c.7852G>T	NP_000129.3:p.Gly2618Ter
NM_000138.5:c.7852G>T MANE Select	NP_000129.3:p.Gly2618Ter