Canonical Allele Identifier: CA490022431

Gene: FBN1

Linked Data

• dbSNP Id: rs1203749556
• gnomAD v2: 15-48737619-C-T
• gnomAD v4: 15-48445422-C-T
• MyVariant Identifiers: chr15:g.48737619C>T (hg19) ; chr15:g.48445422C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48445422C>T , CM000677.2:g.48445422C>T	GRCh38
NC_000015.9:g.48737619C>T , CM000677.1:g.48737619C>T	GRCh37
NC_000015.8:g.46524911C>T	NCBI36
NG_008805.2:g.205367G>A , LRG_778:g.205367G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5871G>A	ENSP00000453958.2:p.Gln1957=
ENST00000674301.2:c.5871G>A	ENSP00000501333.2:p.Gln1957=
ENST00000684448.1:n.4545G>A
ENST00000316623.10:c.5871G>A MANE Select	ENSP00000325527.5:p.Gln1957=
ENST00000674301.1:c.870G>A	ENSP00000501333.1:p.Gln290=
ENST00000316623.9:c.5871G>A	ENSP00000325527.5:p.Gln1957=
ENST00000537463.6:c.*1634G>A	ENSP00000440294.2:n.*1634G>A
ENST00000559133.5:c.1178G>A
NM_000138.4:c.5871G>A , LRG_778t1:c.5871G>A	NP_000129.3:p.Gln1957=
NM_000138.5:c.5871G>A MANE Select	NP_000129.3:p.Gln1957=