Canonical Allele Identifier: CA012746
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 161242
ClinVar RCV Id: RCV001177402 RCV001209766 RCV001588997 RCV002478411
dbSNP Id: rs377621293
ExAC: 15:48796041 C / T
gnomAD v2: 15-48796041-C-T
gnomAD v3: 15-48503844-C-T
gnomAD v4: 15-48503844-C-T
MyVariant Identifiers: chr15:g.48796041C>T (hg19) chr15:g.48503844C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48503844C>T , CM000677.2:g.48503844C>T GRCh38
NC_000015.9:g.48796041C>T , CM000677.1:g.48796041C>T GRCh37
NC_000015.8:g.46583333C>T NCBI36
NG_008805.2:g.146945G>A , LRG_778:g.146945G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.2056G>A ENSP00000453958.2:p.Ala686Thr
ENST00000674301.2:c.2056G>A ENSP00000501333.2:p.Ala686Thr
ENST00000684448.1:n.730G>A
ENST00000316623.10:c.2056G>A MANE Select ENSP00000325527.5:p.Ala686Thr
ENST00000316623.9:c.2056G>A ENSP00000325527.5:p.Ala686Thr
ENST00000537463.6:c.637-29194G>A ENSP00000440294.2:n.637-29194G>A
NM_000138.4:c.2056G>A , LRG_778t1:c.2056G>A NP_000129.3:p.Ala686Thr
NM_000138.5:c.2056G>A MANE Select NP_000129.3:p.Ala686Thr
Search 100 bp 5'
Search 100 bp 3'