Canonical Allele Identifier: CA392320080
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 632818
ClinVar RCV Id: RCV000780260 RCV001242509
dbSNP Id: rs1253681259
gnomAD v2: 15-48703546-G-C
gnomAD v3: 15-48411349-G-C
gnomAD v4: 15-48411349-G-C
MyVariant Identifiers: chr15:g.48703546G>C (hg19) chr15:g.48411349G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48411349G>C , CM000677.2:g.48411349G>C GRCh38
NC_000015.9:g.48703546G>C , CM000677.1:g.48703546G>C GRCh37
NC_000015.8:g.46490838G>C NCBI36
NG_008805.2:g.239440C>G , LRG_778:g.239440C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.*1065C>G ENSP00000453958.2:n.*1065C>G
ENST00000674301.2:c.*1770C>G ENSP00000501333.2:n.*1770C>G
ENST00000682158.1:n.1638C>G
ENST00000682170.1:n.2438C>G
ENST00000682767.1:n.1554C>G
ENST00000316623.10:c.8257C>G MANE Select ENSP00000325527.5:p.Leu2753Val
ENST00000674301.1:c.3423C>G ENSP00000501333.1:n.3423C>G
ENST00000316623.9:c.8257C>G ENSP00000325527.5:p.Leu2753Val
ENST00000559133.5:c.3626C>G
ENST00000561429.1:n.512C>G
NM_000138.4:c.8257C>G , LRG_778t1:c.8257C>G NP_000129.3:p.Leu2753Val
NM_000138.5:c.8257C>G MANE Select NP_000129.3:p.Leu2753Val
Search 100 bp 5'
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