Canonical Allele Identifier: CA058793
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 918500
ClinVar RCV Id: RCV001176154 RCV001875799
dbSNP Id: rs199524640
ExAC: 15:48714152 T / G
gnomAD v2: 15-48714152-T-G
gnomAD v3: 15-48421955-T-G
gnomAD v4: 15-48421955-T-G
MyVariant Identifiers: chr15:g.48714152T>G (hg19) chr15:g.48421955T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48421955T>G , CM000677.2:g.48421955T>G GRCh38
NC_000015.9:g.48714152T>G , CM000677.1:g.48714152T>G GRCh37
NC_000015.8:g.46501444T>G NCBI36
NG_008805.2:g.228834A>C , LRG_778:g.228834A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.*375A>C ENSP00000453958.2:n.*375A>C
ENST00000674301.2:c.*1080A>C ENSP00000501333.2:n.*1080A>C
ENST00000682170.1:n.1748A>C
ENST00000682767.1:n.864A>C
ENST00000316623.10:c.7567A>C MANE Select ENSP00000325527.5:p.Ile2523Leu
ENST00000674301.1:c.2733A>C ENSP00000501333.1:n.2733A>C
ENST00000316623.9:c.7567A>C ENSP00000325527.5:p.Ile2523Leu
ENST00000559133.5:c.2936A>C
NM_000138.4:c.7567A>C , LRG_778t1:c.7567A>C NP_000129.3:p.Ile2523Leu
NM_000138.5:c.7567A>C MANE Select NP_000129.3:p.Ile2523Leu
Search 100 bp 5'
Search 100 bp 3'