Canonical Allele Identifier: CA017847

Gene: FBN1

Linked Data

• ClinVar Variation Id: 199960
• ClinVar RCV Id: RCV000181419 ; RCV000247580 ; RCV000289798 ; RCV000288772 ; RCV000347117 ; RCV000407488 ; RCV000407491 ; RCV000461203 ; RCV000377435 ; RCV000995347 ; RCV003224198
• dbSNP Id: rs142888621
• ExAC: 15:48818413 C / A
• gnomAD v2: 15-48818413-C-A
• gnomAD v3: 15-48526216-C-A
• gnomAD v4: 15-48526216-C-A
• MyVariant Identifiers: chr15:g.48818413C>A (hg19) ; chr15:g.48526216C>A (hg38)
• PubMed: PMID:26188975 ; PMID:26787436 ; PMID:28655553

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48526216C>A , CM000677.2:g.48526216C>A	GRCh38
NC_000015.9:g.48818413C>A , CM000677.1:g.48818413C>A	GRCh37
NC_000015.8:g.46605705C>A	NCBI36
NG_008805.2:g.124573G>T , LRG_778:g.124573G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.902G>T	ENSP00000453958.2:p.Gly301Val
ENST00000674301.2:c.902G>T	ENSP00000501333.2:p.Gly301Val
ENST00000316623.10:c.902G>T MANE Select	ENSP00000325527.5:p.Gly301Val
ENST00000316623.9:c.902G>T	ENSP00000325527.5:p.Gly301Val
ENST00000537463.6:c.636+11495G>T	ENSP00000440294.2:n.636+11495G>T
NM_000138.4:c.902G>T , LRG_778t1:c.902G>T	NP_000129.3:p.Gly301Val
NM_000138.5:c.902G>T MANE Select	NP_000129.3:p.Gly301Val