Canonical Allele Identifier: CA013585

Gene: FBN1

Linked Data

• ClinVar Variation Id: 200008
• ClinVar RCV Id: RCV000181473 ; RCV000586105 ; RCV000549578 ; RCV000663591 ; RCV001374767 ; RCV002310746
• dbSNP Id: rs794728199
• gnomAD v3: 15-48489980-C-T
• gnomAD v4: 15-48489980-C-T
• MyVariant Identifiers: chr15:g.48782177C>T (hg19) ; chr15:g.48489980C>T (hg38)
• PubMed: PMID:10441597 ; PMID:11700157 ; PMID:15241795 ; PMID:16220557 ; PMID:17627385 ; PMID:19002209 ; PMID:19161152 ; PMID:19293843 ; PMID:19863550 ; PMID:24199744 ; PMID:27479044 ; PMID:27611364

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48489980C>T , CM000677.2:g.48489980C>T	GRCh38
NC_000015.9:g.48782177C>T , CM000677.1:g.48782177C>T	GRCh37
NC_000015.8:g.46569469C>T	NCBI36
NG_008805.2:g.160809G>A , LRG_778:g.160809G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.2953G>A	ENSP00000453958.2:p.Gly985Arg
ENST00000674301.2:c.2953G>A	ENSP00000501333.2:p.Gly985Arg
ENST00000684448.1:n.1627G>A
ENST00000316623.10:c.2953G>A MANE Select	ENSP00000325527.5:p.Gly985Arg
ENST00000316623.9:c.2953G>A	ENSP00000325527.5:p.Gly985Arg
ENST00000537463.6:c.637-15330G>A	ENSP00000440294.2:n.637-15330G>A
NM_000138.4:c.2953G>A , LRG_778t1:c.2953G>A	NP_000129.3:p.Gly985Arg
NM_000138.5:c.2953G>A MANE Select	NP_000129.3:p.Gly985Arg