Canonical Allele Identifier: CA490028513

Gene: FBN1

Linked Data

• ClinVar Variation Id: 3042479
• ClinVar RCV Id: RCV004532131
• MyVariant Identifiers: chr15:g.48812950C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48520753C>T , CM000677.2:g.48520753C>T	GRCh38
NC_000015.9:g.48812950C>T , CM000677.1:g.48812950C>T	GRCh37
NC_000015.8:g.46600242C>T	NCBI36
NG_008805.2:g.130036G>A , LRG_778:g.130036G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.1053G>A	ENSP00000453958.2:p.Gln351=
ENST00000674301.2:c.1053G>A	ENSP00000501333.2:p.Gln351=
ENST00000316623.10:c.1053G>A MANE Select	ENSP00000325527.5:p.Gln351=
ENST00000316623.9:c.1053G>A	ENSP00000325527.5:p.Gln351=
ENST00000537463.6:c.636+16958G>A	ENSP00000440294.2:n.636+16958G>A
NM_000138.4:c.1053G>A , LRG_778t1:c.1053G>A	NP_000129.3:p.Gln351=
NM_000138.5:c.1053G>A MANE Select	NP_000129.3:p.Gln351=