Canonical Allele Identifier: CA10646172

Gene: FBN1

Linked Data

• ClinVar Variation Id: 316336
• ClinVar RCV Id: RCV000267390 ; RCV000297917 ; RCV000300488 ; RCV000303866 ; RCV000336602 ; RCV000358382 ; RCV000393665 ; RCV001778903
• dbSNP Id: rs77212138
• gnomAD v2: 15-48701819-T-C
• gnomAD v3: 15-48409622-T-C
• gnomAD v4: 15-48409622-T-C
• MyVariant Identifiers: chr15:g.48701819T>C (hg19) ; chr15:g.48409622T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48409622T>C , CM000677.2:g.48409622T>C	GRCh38
NC_000015.9:g.48701819T>C , CM000677.1:g.48701819T>C	GRCh37
NC_000015.8:g.46489111T>C	NCBI36
NG_008805.2:g.241167A>G , LRG_778:g.241167A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682170.1:n.4165A>G
ENST00000682767.1:n.3281A>G
ENST00000316623.10:c.*1368A>G MANE Select	ENSP00000325527.5:n.*1368A>G
ENST00000316623.9:c.*1368A>G	ENSP00000325527.5:n.*1368A>G
NM_000138.4:c.*1368A>G , LRG_778t1:c.*1368A>G	NP_000129.3:n.*1368A>G
NM_000138.5:c.*1368A>G MANE Select	NP_000129.3:n.*1368A>G