Canonical Allele Identifier: CA490015839
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2420961
ClinVar RCV Id: RCV003112621
dbSNP Id: rs1469455764
gnomAD v2: 15-48713876-A-G
gnomAD v3: 15-48421679-A-G
gnomAD v4: 15-48421679-A-G
MyVariant Identifiers: chr15:g.48713876A>G (hg19) chr15:g.48421679A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48421679A>G , CM000677.2:g.48421679A>G GRCh38
NC_000015.9:g.48713876A>G , CM000677.1:g.48713876A>G GRCh37
NC_000015.8:g.46501168A>G NCBI36
NG_008805.2:g.229110T>C , LRG_778:g.229110T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.*386T>C ENSP00000453958.2:n.*386T>C
ENST00000674301.2:c.*1091T>C ENSP00000501333.2:n.*1091T>C
ENST00000682170.1:n.1759T>C
ENST00000682767.1:n.875T>C
ENST00000316623.10:c.7578T>C MANE Select ENSP00000325527.5:p.Asn2526=
ENST00000674301.1:c.2744T>C ENSP00000501333.1:n.2744T>C
ENST00000316623.9:c.7578T>C ENSP00000325527.5:p.Asn2526=
ENST00000559133.5:c.2947T>C
NM_000138.4:c.7578T>C , LRG_778t1:c.7578T>C NP_000129.3:p.Asn2526=
NM_000138.5:c.7578T>C MANE Select NP_000129.3:p.Asn2526=
Search 100 bp 5'
Search 100 bp 3'