Canonical Allele Identifier: CA050235
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 920090
ClinVar RCV Id: RCV001178663 RCV001811684 RCV002068226
dbSNP Id: rs767088495
ExAC: 15:48780392 C / T
gnomAD v2: 15-48780392-C-T
gnomAD v3: 15-48488195-C-T
gnomAD v4: 15-48488195-C-T
MyVariant Identifiers: chr15:g.48780392C>T (hg19) chr15:g.48488195C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48488195C>T , CM000677.2:g.48488195C>T GRCh38
NC_000015.9:g.48780392C>T , CM000677.1:g.48780392C>T GRCh37
NC_000015.8:g.46567684C>T NCBI36
NG_008805.2:g.162594G>A , LRG_778:g.162594G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.3255G>A ENSP00000453958.2:p.Gln1085=
ENST00000674301.2:c.3255G>A ENSP00000501333.2:p.Gln1085=
ENST00000684448.1:n.1929G>A
ENST00000316623.10:c.3255G>A MANE Select ENSP00000325527.5:p.Gln1085=
ENST00000316623.9:c.3255G>A ENSP00000325527.5:p.Gln1085=
ENST00000537463.6:c.637-13545G>A ENSP00000440294.2:n.637-13545G>A
NM_000138.4:c.3255G>A , LRG_778t1:c.3255G>A NP_000129.3:p.Gln1085=
NM_000138.5:c.3255G>A MANE Select NP_000129.3:p.Gln1085=
Search 100 bp 5'
Search 100 bp 3'