Canonical Allele Identifier: CA10646184
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 316349
ClinVar RCV Id: RCV000260214 RCV000299863 RCV000315498 RCV000345881 RCV000357081 RCV000367382 RCV000398682 RCV001712027
dbSNP Id: rs189749406
gnomAD v2: 15-48702320-C-A
gnomAD v3: 15-48410123-C-A
gnomAD v4: 15-48410123-C-A
MyVariant Identifiers: chr15:g.48702320C>A (hg19) chr15:g.48410123C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48410123C>A , CM000677.2:g.48410123C>A GRCh38
NC_000015.9:g.48702320C>A , CM000677.1:g.48702320C>A GRCh37
NC_000015.8:g.46489612C>A NCBI36
NG_008805.2:g.240666G>T , LRG_778:g.240666G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.*2291G>T ENSP00000453958.2:n.*2291G>T
ENST00000682158.1:n.2864G>T
ENST00000682170.1:n.3664G>T
ENST00000682767.1:n.2780G>T
ENST00000316623.10:c.*867G>T MANE Select ENSP00000325527.5:n.*867G>T
ENST00000316623.9:c.*867G>T ENSP00000325527.5:n.*867G>T
ENST00000559133.5:c.4852G>T
NM_000138.4:c.*867G>T , LRG_778t1:c.*867G>T NP_000129.3:n.*867G>T
NM_000138.5:c.*867G>T MANE Select NP_000129.3:n.*867G>T
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