Canonical Allele Identifier: CA012066

Gene: FBN1

Linked Data

• ClinVar Variation Id: 199966
• ClinVar RCV Id: RCV000181427 ; RCV000697626 ; RCV001178813 ; RCV002500528 ; RCV003996674
• dbSNP Id: rs368089138
• ExAC: 15:48808421 C / T
• gnomAD v2: 15-48808421-C-T
• gnomAD v3: 15-48516224-C-T
• gnomAD v4: 15-48516224-C-T
• MyVariant Identifiers: chr15:g.48808421C>T (hg19) ; chr15:g.48516224C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48516224C>T , CM000677.2:g.48516224C>T	GRCh38
NC_000015.9:g.48808421C>T , CM000677.1:g.48808421C>T	GRCh37
NC_000015.8:g.46595713C>T	NCBI36
NG_008805.2:g.134565G>A , LRG_778:g.134565G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.1286G>A	ENSP00000453958.2:p.Arg429Gln
ENST00000674301.2:c.1286G>A	ENSP00000501333.2:p.Arg429Gln
ENST00000316623.10:c.1286G>A MANE Select	ENSP00000325527.5:p.Arg429Gln
ENST00000316623.9:c.1286G>A	ENSP00000325527.5:p.Arg429Gln
ENST00000537463.6:c.636+21487G>A	ENSP00000440294.2:n.636+21487G>A
NM_000138.4:c.1286G>A , LRG_778t1:c.1286G>A	NP_000129.3:p.Arg429Gln
NM_000138.5:c.1286G>A MANE Select	NP_000129.3:p.Arg429Gln