Canonical Allele Identifier: CA017603

Gene: FBN1

Linked Data

• ClinVar Variation Id: 199954
• ClinVar RCV Id: RCV000181412 ; RCV000267742 ; RCV000291882 ; RCV000295523 ; RCV000352752 ; RCV000382017 ; RCV000325046 ; RCV000387427 ; RCV000458019 ; RCV003390904
• dbSNP Id: rs370096856
• ExAC: 15:48704807 T / G
• gnomAD v2: 15-48704807-T-G
• gnomAD v3: 15-48412610-T-G
• gnomAD v4: 15-48412610-T-G
• MyVariant Identifiers: chr15:g.48704807T>G (hg19) ; chr15:g.48412610T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48412610T>G , CM000677.2:g.48412610T>G	GRCh38
NC_000015.9:g.48704807T>G , CM000677.1:g.48704807T>G	GRCh37
NC_000015.8:g.46492099T>G	NCBI36
NG_008805.2:g.238179A>C , LRG_778:g.238179A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*993A>C	ENSP00000453958.2:n.*993A>C
ENST00000674301.2:c.*1698A>C	ENSP00000501333.2:n.*1698A>C
ENST00000682158.1:n.1566A>C
ENST00000682170.1:n.2366A>C
ENST00000682767.1:n.1482A>C
ENST00000316623.10:c.8185A>C MANE Select	ENSP00000325527.5:p.Lys2729Gln
ENST00000674301.1:c.3351A>C	ENSP00000501333.1:n.3351A>C
ENST00000316623.9:c.8185A>C	ENSP00000325527.5:p.Lys2729Gln
ENST00000559133.5:c.3554A>C
ENST00000561429.1:n.440A>C
NM_000138.4:c.8185A>C , LRG_778t1:c.8185A>C	NP_000129.3:p.Lys2729Gln
NM_000138.5:c.8185A>C MANE Select	NP_000129.3:p.Lys2729Gln