Canonical Allele Identifier: CA16602237

Gene: FBN1

Linked Data

• ClinVar Variation Id: 406274
• ClinVar RCV Id: RCV000468306 ; RCV003329279
• dbSNP Id: rs1060501023
• MyVariant Identifiers: chr15:g.48722955G>A (hg19) ; chr15:g.48430758G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48430758G>A , CM000677.2:g.48430758G>A	GRCh38
NC_000015.9:g.48722955G>A , CM000677.1:g.48722955G>A	GRCh37
NC_000015.8:g.46510247G>A	NCBI36
NG_008805.2:g.220031C>T , LRG_778:g.220031C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6784C>T	ENSP00000453958.2:p.Gln2262Ter
ENST00000674301.2:c.*235C>T	ENSP00000501333.2:n.*235C>T
ENST00000682170.1:n.393C>T
ENST00000316623.10:c.6784C>T MANE Select	ENSP00000325527.5:p.Gln2262Ter
ENST00000674301.1:c.1888C>T	ENSP00000501333.1:n.1888C>T
ENST00000316623.9:c.6784C>T	ENSP00000325527.5:p.Gln2262Ter
ENST00000559133.5:c.2091C>T
ENST00000560720.1:n.71C>T
NM_000138.4:c.6784C>T , LRG_778t1:c.6784C>T	NP_000129.3:p.Gln2262Ter
NM_000138.5:c.6784C>T MANE Select	NP_000129.3:p.Gln2262Ter