Canonical Allele Identifier: CA058511

Gene: FBN1

Linked Data

• ClinVar Variation Id: 457260
• ClinVar RCV Id: RCV000560403 ; RCV001177890 ; RCV000995330 ; RCV002506299 ; RCV004003795
• dbSNP Id: rs770839761
• ExAC: 15:48717619 T / C
• gnomAD v2: 15-48717619-T-C
• gnomAD v3: 15-48425422-T-C
• gnomAD v4: 15-48425422-T-C
• MyVariant Identifiers: chr15:g.48717619T>C (hg19) ; chr15:g.48425422T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48425422T>C , CM000677.2:g.48425422T>C	GRCh38
NC_000015.9:g.48717619T>C , CM000677.1:g.48717619T>C	GRCh37
NC_000015.8:g.46504911T>C	NCBI36
NG_008805.2:g.225367A>G , LRG_778:g.225367A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*208A>G	ENSP00000453958.2:n.*208A>G
ENST00000674301.2:c.*913A>G	ENSP00000501333.2:n.*913A>G
ENST00000682170.1:n.1581A>G
ENST00000682767.1:n.697A>G
ENST00000316623.10:c.7400A>G MANE Select	ENSP00000325527.5:p.Gln2467Arg
ENST00000674301.1:c.2566A>G	ENSP00000501333.1:n.2566A>G
ENST00000316623.9:c.7400A>G	ENSP00000325527.5:p.Gln2467Arg
ENST00000559133.5:c.2769A>G
NM_000138.4:c.7400A>G , LRG_778t1:c.7400A>G	NP_000129.3:p.Gln2467Arg
NM_000138.5:c.7400A>G MANE Select	NP_000129.3:p.Gln2467Arg