Canonical Allele Identifier: CA10642083

Gene: FBN1

Linked Data

• ClinVar Variation Id: 316331
• ClinVar RCV Id: RCV000277465 ; RCV000302470 ; RCV000308119 ; RCV000332570 ; RCV000362775 ; RCV000366545 ; RCV000368733
• dbSNP Id: rs533502309
• gnomAD v2: 15-48701703-G-A
• gnomAD v3: 15-48409506-G-A
• gnomAD v4: 15-48409506-G-A
• COSMIC: COSN8174173
• MyVariant Identifiers: chr15:g.48701703G>A (hg19) ; chr15:g.48409506G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48409506G>A , CM000677.2:g.48409506G>A	GRCh38
NC_000015.9:g.48701703G>A , CM000677.1:g.48701703G>A	GRCh37
NC_000015.8:g.46488995G>A	NCBI36
NG_008805.2:g.241283C>T , LRG_778:g.241283C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682170.1:n.4281C>T
ENST00000682767.1:n.3397C>T
ENST00000316623.10:c.*1484C>T MANE Select	ENSP00000325527.5:n.*1484C>T
ENST00000316623.9:c.*1484C>T	ENSP00000325527.5:n.*1484C>T
NM_000138.4:c.*1484C>T , LRG_778t1:c.*1484C>T	NP_000129.3:n.*1484C>T
NM_000138.5:c.*1484C>T MANE Select	NP_000129.3:n.*1484C>T