Canonical Allele Identifier: CA049335
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1515556
ClinVar RCV Id: RCV002261444 RCV002441218 RCV002048544
dbSNP Id: rs751985082
ExAC: 15:48782221 G / A
gnomAD v2: 15-48782221-G-A
gnomAD v3: 15-48490024-G-A
gnomAD v4: 15-48490024-G-A
MyVariant Identifiers: chr15:g.48782221G>A (hg19) chr15:g.48490024G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48490024G>A , CM000677.2:g.48490024G>A GRCh38
NC_000015.9:g.48782221G>A , CM000677.1:g.48782221G>A GRCh37
NC_000015.8:g.46569513G>A NCBI36
NG_008805.2:g.160765C>T , LRG_778:g.160765C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.2909C>T ENSP00000453958.2:p.Pro970Leu
ENST00000674301.2:c.2909C>T ENSP00000501333.2:p.Pro970Leu
ENST00000684448.1:n.1583C>T
ENST00000316623.10:c.2909C>T MANE Select ENSP00000325527.5:p.Pro970Leu
ENST00000316623.9:c.2909C>T ENSP00000325527.5:p.Pro970Leu
ENST00000537463.6:c.637-15374C>T ENSP00000440294.2:n.637-15374C>T
NM_000138.4:c.2909C>T , LRG_778t1:c.2909C>T NP_000129.3:p.Pro970Leu
NM_000138.5:c.2909C>T MANE Select NP_000129.3:p.Pro970Leu
Search 100 bp 5'
Search 100 bp 3'