Canonical Allele Identifier: CA013504

Gene: FBN1

Linked Data

• ClinVar Variation Id: 42320
• ClinVar RCV Id: RCV000035154 ; RCV000227421 ; RCV000297968 ; RCV000310979 ; RCV000314502 ; RCV000350683 ; RCV000356235 ; RCV000362108 ; RCV000406637 ; RCV001311041
• dbSNP Id: rs140591
• ExAC: 15:48782235 C / T
• gnomAD v2: 15-48782235-C-T
• gnomAD v3: 15-48490038-C-T
• gnomAD v4: 15-48490038-C-T
• MyVariant Identifiers: chr15:g.48782235C>T (hg19) ; chr15:g.48490038C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48490038C>T , CM000677.2:g.48490038C>T	GRCh38
NC_000015.9:g.48782235C>T , CM000677.1:g.48782235C>T	GRCh37
NC_000015.8:g.46569527C>T	NCBI36
NG_008805.2:g.160751G>A , LRG_778:g.160751G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.2895G>A	ENSP00000453958.2:p.Glu965=
ENST00000674301.2:c.2895G>A	ENSP00000501333.2:p.Glu965=
ENST00000684448.1:n.1569G>A
ENST00000316623.10:c.2895G>A MANE Select	ENSP00000325527.5:p.Glu965=
ENST00000316623.9:c.2895G>A	ENSP00000325527.5:p.Glu965=
ENST00000537463.6:c.637-15388G>A	ENSP00000440294.2:n.637-15388G>A
NM_000138.4:c.2895G>A , LRG_778t1:c.2895G>A	NP_000129.3:p.Glu965=
NM_000138.5:c.2895G>A MANE Select	NP_000129.3:p.Glu965=