Canonical Allele Identifier: CA016821
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 42413
ClinVar RCV Id: RCV000035258 RCV000245186 RCV000288735 RCV000304078 RCV000292617 RCV000343590 RCV000347533 RCV000386791 RCV000475789 RCV001794466 RCV003224117
dbSNP Id: rs363830
ExAC: 15:48720652 C / T
gnomAD v2: 15-48720652-C-T
gnomAD v3: 15-48428455-C-T
gnomAD v4: 15-48428455-C-T
MyVariant Identifiers: chr15:g.48720652C>T (hg19) chr15:g.48428455C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48428455C>T , CM000677.2:g.48428455C>T GRCh38
NC_000015.9:g.48720652C>T , CM000677.1:g.48720652C>T GRCh37
NC_000015.8:g.46507944C>T NCBI36
NG_008805.2:g.222334G>A , LRG_778:g.222334G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.6888G>A ENSP00000453958.2:p.Gln2296=
ENST00000674301.2:c.*339G>A ENSP00000501333.2:n.*339G>A
ENST00000682170.1:n.497G>A
ENST00000682767.1:n.123G>A
ENST00000316623.10:c.6888G>A MANE Select ENSP00000325527.5:p.Gln2296=
ENST00000674301.1:c.1992G>A ENSP00000501333.1:n.1992G>A
ENST00000316623.9:c.6888G>A ENSP00000325527.5:p.Gln2296=
ENST00000559133.5:c.2195G>A
ENST00000560720.1:n.175G>A
NM_000138.4:c.6888G>A , LRG_778t1:c.6888G>A NP_000129.3:p.Gln2296=
NM_000138.5:c.6888G>A MANE Select NP_000129.3:p.Gln2296=
Search 100 bp 5'
Search 100 bp 3'