Canonical Allele Identifier: CA017067

Gene: FBN1

Linked Data

• ClinVar Variation Id: 16461
• ClinVar RCV Id: RCV000017924 ; RCV000017925 ; RCV000181681 ; RCV000515367 ; RCV000631968 ; RCV002307365 ; RCV001170326
• dbSNP Id: rs137854480
• gnomAD v4: 15-48537629-G-A
• MyVariant Identifiers: chr15:g.48829826G>A (hg19) ; chr15:g.48537629G>A (hg38)
• PubMed: PMID:7802039 ; PMID:9399842 ; PMID:11700157 ; PMID:11826022 ; PMID:12446365 ; PMID:14695540 ; PMID:15054843 ; PMID:17701892 ; PMID:20375004

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48537629G>A , CM000677.2:g.48537629G>A	GRCh38
NC_000015.9:g.48829826G>A , CM000677.1:g.48829826G>A	GRCh37
NC_000015.8:g.46617118G>A	NCBI36
NG_008805.2:g.113160C>T , LRG_778:g.113160C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.718C>T	ENSP00000453958.2:p.Arg240Cys
ENST00000674301.2:c.718C>T	ENSP00000501333.2:p.Arg240Cys
ENST00000316623.10:c.718C>T MANE Select	ENSP00000325527.5:p.Arg240Cys
ENST00000316623.9:c.718C>T	ENSP00000325527.5:p.Arg240Cys
ENST00000537463.6:c.636+82C>T	ENSP00000440294.2:n.636+82C>T
NM_000138.4:c.718C>T , LRG_778t1:c.718C>T	NP_000129.3:p.Arg240Cys
NM_000138.5:c.718C>T MANE Select	NP_000129.3:p.Arg240Cys