Canonical Allele Identifier: CA392320285
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1512931
ClinVar RCV Id: RCV002023274 RCV002479784 RCV003528350 RCV004011145 RCV004543683
dbSNP Id: rs1238143005
gnomAD v2: 15-48766532-T-A
gnomAD v3: 15-48474335-T-A
gnomAD v4: 15-48474335-T-A
MyVariant Identifiers: chr15:g.48766532T>A (hg19) chr15:g.48474335T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48474335T>A , CM000677.2:g.48474335T>A GRCh38
NC_000015.9:g.48766532T>A , CM000677.1:g.48766532T>A GRCh37
NC_000015.8:g.46553824T>A NCBI36
NG_008805.2:g.176454A>T , LRG_778:g.176454A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.4130A>T ENSP00000453958.2:p.His1377Leu
ENST00000674301.2:c.4130A>T ENSP00000501333.2:p.His1377Leu
ENST00000684448.1:n.2804A>T
ENST00000316623.10:c.4130A>T MANE Select ENSP00000325527.5:p.His1377Leu
ENST00000316623.9:c.4130A>T ENSP00000325527.5:p.His1377Leu
ENST00000537463.6:c.802A>T ENSP00000440294.2:p.Met268Leu
NM_000138.4:c.4130A>T , LRG_778t1:c.4130A>T NP_000129.3:p.His1377Leu
NM_000138.5:c.4130A>T MANE Select NP_000129.3:p.His1377Leu
Search 100 bp 5'
Search 100 bp 3'