Canonical Allele Identifier: CA014098

Gene: FBN1

Linked Data

• ClinVar Variation Id: 42334
• ClinVar RCV Id: RCV000035170 ; RCV000228084 ; RCV000266428 ; RCV000251557 ; RCV000279248 ; RCV000292691 ; RCV000375425 ; RCV000377620 ; RCV000337118 ; RCV001703450 ; RCV001775003
• dbSNP Id: rs2228241
• ExAC: 15:48779550 G / A
• gnomAD v2: 15-48779550-G-A
• gnomAD v3: 15-48487353-G-A
• gnomAD v4: 15-48487353-G-A
• MyVariant Identifiers: chr15:g.48779550G>A (hg19) ; chr15:g.48487353G>A (hg38)
• ERepo: CA014098/MONDO:0007947/022
• PubMed: PMID:10533071 ; PMID:24740214 ; PMID:25203624

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48487353G>A , CM000677.2:g.48487353G>A	GRCh38
NC_000015.9:g.48779550G>A , CM000677.1:g.48779550G>A	GRCh37
NC_000015.8:g.46566842G>A	NCBI36
NG_008805.2:g.163436C>T , LRG_778:g.163436C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3422C>T	ENSP00000453958.2:p.Pro1141Leu
ENST00000674301.2:c.3422C>T	ENSP00000501333.2:p.Pro1141Leu
ENST00000684448.1:n.2096C>T
ENST00000316623.10:c.3422C>T MANE Select	ENSP00000325527.5:p.Pro1141Leu
ENST00000316623.9:c.3422C>T	ENSP00000325527.5:p.Pro1141Leu
ENST00000537463.6:c.637-12703C>T	ENSP00000440294.2:n.637-12703C>T
NM_000138.4:c.3422C>T , LRG_778t1:c.3422C>T	NP_000129.3:p.Pro1141Leu
NM_000138.5:c.3422C>T MANE Select	NP_000129.3:p.Pro1141Leu