Canonical Allele Identifier: CA015467

Gene: FBN1

Linked Data

• ClinVar Variation Id: 200186
• ClinVar RCV Id: RCV000181693 ; RCV000631940 ; RCV000663756 ; RCV000780237 ; RCV001374847 ; RCV002310748
• dbSNP Id: rs140630
• ExAC: 15:48757777 G / A
• gnomAD v4: 15-48465580-G-A
• MyVariant Identifiers: chr15:g.48757777G>A (hg19) ; chr15:g.48465580G>A (hg38)
• PubMed: PMID:11700157 ; PMID:12068374 ; PMID:17663468 ; PMID:24199744 ; PMID:25525159

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48465580G>A , CM000677.2:g.48465580G>A	GRCh38
NC_000015.9:g.48757777G>A , CM000677.1:g.48757777G>A	GRCh37
NC_000015.8:g.46545069G>A	NCBI36
NG_008805.2:g.185209C>T , LRG_778:g.185209C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4930C>T	ENSP00000453958.2:p.Arg1644Ter
ENST00000674301.2:c.4930C>T	ENSP00000501333.2:p.Arg1644Ter
ENST00000684448.1:n.3604C>T
ENST00000316623.10:c.4930C>T MANE Select	ENSP00000325527.5:p.Arg1644Ter
ENST00000316623.9:c.4930C>T	ENSP00000325527.5:p.Arg1644Ter
ENST00000537463.6:c.*693C>T	ENSP00000440294.2:n.*693C>T
ENST00000559133.5:c.237C>T
NM_000138.4:c.4930C>T , LRG_778t1:c.4930C>T	NP_000129.3:p.Arg1644Ter
NM_000138.5:c.4930C>T MANE Select	NP_000129.3:p.Arg1644Ter