Canonical Allele Identifier: CA10642073

Gene: FBN1

Linked Data

• ClinVar Variation Id: 316305
• ClinVar RCV Id: RCV000261507 ; RCV000262543 ; RCV000302246 ; RCV000341826 ; RCV000353786 ; RCV000359661 ; RCV000403235
• dbSNP Id: rs377530465
• gnomAD v2: 15-48700789-C-A
• gnomAD v3: 15-48408592-C-A
• gnomAD v4: 15-48408592-C-A
• MyVariant Identifiers: chr15:g.48700789C>A (hg19) ; chr15:g.48408592C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48408592C>A , CM000677.2:g.48408592C>A	GRCh38
NC_000015.9:g.48700789C>A , CM000677.1:g.48700789C>A	GRCh37
NC_000015.8:g.46488081C>A	NCBI36
NG_008805.2:g.242197G>T , LRG_778:g.242197G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682170.1:n.5195G>T
ENST00000682767.1:n.4311G>T
ENST00000316623.10:c.*2398G>T MANE Select	ENSP00000325527.5:n.*2398G>T
ENST00000316623.9:c.*2398G>T	ENSP00000325527.5:n.*2398G>T
NM_000138.4:c.*2398G>T , LRG_778t1:c.*2398G>T	NP_000129.3:n.*2398G>T
NM_000138.5:c.*2398G>T MANE Select	NP_000129.3:n.*2398G>T