Canonical Allele Identifier: CA017256
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 200198
ClinVar RCV Id: RCV000181705 RCV000631971 RCV001844074 RCV002314687 RCV003235103
dbSNP Id: rs794728336
gnomAD v4: 15-48421680-T-C
MyVariant Identifiers: chr15:g.48713877T>C (hg19) chr15:g.48421680T>C (hg38)
PubMed: PMID:17657824
ERepo: CA017256/MONDO:0007947/022
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48421680T>C , CM000677.2:g.48421680T>C GRCh38
NC_000015.9:g.48713877T>C , CM000677.1:g.48713877T>C GRCh37
NC_000015.8:g.46501169T>C NCBI36
NG_008805.2:g.229109A>G , LRG_778:g.229109A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.*385A>G ENSP00000453958.2:n.*385A>G
ENST00000674301.2:c.*1090A>G ENSP00000501333.2:n.*1090A>G
ENST00000682170.1:n.1758A>G
ENST00000682767.1:n.874A>G
ENST00000316623.10:c.7577A>G MANE Select ENSP00000325527.5:p.Asn2526Ser
ENST00000674301.1:c.2743A>G ENSP00000501333.1:n.2743A>G
ENST00000316623.9:c.7577A>G ENSP00000325527.5:p.Asn2526Ser
ENST00000559133.5:c.2946A>G
NM_000138.4:c.7577A>G , LRG_778t1:c.7577A>G NP_000129.3:p.Asn2526Ser
NM_000138.5:c.7577A>G MANE Select NP_000129.3:p.Asn2526Ser
Search 100 bp 5'
Search 100 bp 3'