Canonical Allele Identifier: CA392320294
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 647282
ClinVar RCV Id: RCV000801760 RCV001805869
dbSNP Id: rs1597553861
MyVariant Identifiers: chr15:g.48766535T>C (hg19) chr15:g.48474338T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48474338T>C , CM000677.2:g.48474338T>C GRCh38
NC_000015.9:g.48766535T>C , CM000677.1:g.48766535T>C GRCh37
NC_000015.8:g.46553827T>C NCBI36
NG_008805.2:g.176451A>G , LRG_778:g.176451A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.4127A>G ENSP00000453958.2:p.Gln1376Arg
ENST00000674301.2:c.4127A>G ENSP00000501333.2:p.Gln1376Arg
ENST00000684448.1:n.2801A>G
ENST00000316623.10:c.4127A>G MANE Select ENSP00000325527.5:p.Gln1376Arg
ENST00000316623.9:c.4127A>G ENSP00000325527.5:p.Gln1376Arg
ENST00000537463.6:c.799A>G ENSP00000440294.2:p.Ser267Gly
NM_000138.4:c.4127A>G , LRG_778t1:c.4127A>G NP_000129.3:p.Gln1376Arg
NM_000138.5:c.4127A>G MANE Select NP_000129.3:p.Gln1376Arg
Search 100 bp 5'
Search 100 bp 3'