Canonical Allele Identifier: CA058702

Gene: FBN1

Linked Data

• ClinVar Variation Id: 495646
• ClinVar RCV Id: RCV000589325 ; RCV002483564 ; RCV003767333
• dbSNP Id: rs371110611
• ExAC: 15:48714218 C / G
• gnomAD v2: 15-48714218-C-G
• gnomAD v3: 15-48422021-C-G
• gnomAD v4: 15-48422021-C-G
• MyVariant Identifiers: chr15:g.48714218C>G (hg19) ; chr15:g.48422021C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48422021C>G , CM000677.2:g.48422021C>G	GRCh38
NC_000015.9:g.48714218C>G , CM000677.1:g.48714218C>G	GRCh37
NC_000015.8:g.46501510C>G	NCBI36
NG_008805.2:g.228768G>C , LRG_778:g.228768G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*309G>C	ENSP00000453958.2:n.*309G>C
ENST00000674301.2:c.*1014G>C	ENSP00000501333.2:n.*1014G>C
ENST00000682170.1:n.1682G>C
ENST00000682767.1:n.798G>C
ENST00000316623.10:c.7501G>C MANE Select	ENSP00000325527.5:p.Val2501Leu
ENST00000674301.1:c.2667G>C	ENSP00000501333.1:n.2667G>C
ENST00000316623.9:c.7501G>C	ENSP00000325527.5:p.Val2501Leu
ENST00000559133.5:c.2870G>C
NM_000138.4:c.7501G>C , LRG_778t1:c.7501G>C	NP_000129.3:p.Val2501Leu
NM_000138.5:c.7501G>C MANE Select	NP_000129.3:p.Val2501Leu