Canonical Allele Identifier: CA012467

Gene: FBN1

Linked Data

• ClinVar Variation Id: 199975
• ClinVar RCV Id: RCV000181438 ; RCV000508191 ; RCV000663482 ; RCV001053575 ; RCV002310745
• dbSNP Id: rs113422242
• gnomAD v3: 15-48510065-G-A
• gnomAD v4: 15-48510065-G-A
• MyVariant Identifiers: chr15:g.48802262G>A (hg19) ; chr15:g.48510065G>A (hg38)
• PubMed: PMID:10874320 ; PMID:16222657 ; PMID:17657824 ; PMID:19159394 ; PMID:19618372 ; PMID:21542060 ; PMID:27724990

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48510065G>A , CM000677.2:g.48510065G>A	GRCh38
NC_000015.9:g.48802262G>A , CM000677.1:g.48802262G>A	GRCh37
NC_000015.8:g.46589554G>A	NCBI36
NG_008805.2:g.140724C>T , LRG_778:g.140724C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.1693C>T	ENSP00000453958.2:p.Arg565Ter
ENST00000674301.2:c.1693C>T	ENSP00000501333.2:p.Arg565Ter
ENST00000684448.1:n.367C>T
ENST00000316623.10:c.1693C>T MANE Select	ENSP00000325527.5:p.Arg565Ter
ENST00000316623.9:c.1693C>T	ENSP00000325527.5:p.Arg565Ter
ENST00000537463.6:c.636+27646C>T	ENSP00000440294.2:n.636+27646C>T
NM_000138.4:c.1693C>T , LRG_778t1:c.1693C>T	NP_000129.3:p.Arg565Ter
NM_000138.5:c.1693C>T MANE Select	NP_000129.3:p.Arg565Ter