Canonical Allele Identifier: CA16619940
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 423862
ClinVar RCV Id: RCV000487148
dbSNP Id: rs1064796667
MyVariant Identifiers: chr15:g.48712933G>C (hg19) chr15:g.48420736G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48420736G>C , CM000677.2:g.48420736G>C GRCh38
NC_000015.9:g.48712933G>C , CM000677.1:g.48712933G>C GRCh37
NC_000015.8:g.46500225G>C NCBI36
NG_008805.2:g.230053C>G , LRG_778:g.230053C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.*578C>G ENSP00000453958.2:n.*578C>G
ENST00000674301.2:c.*1283C>G ENSP00000501333.2:n.*1283C>G
ENST00000682170.1:n.1951C>G
ENST00000682767.1:n.1067C>G
ENST00000316623.10:c.7770C>G MANE Select ENSP00000325527.5:p.Cys2590Trp
ENST00000674301.1:c.2936C>G ENSP00000501333.1:n.2936C>G
ENST00000316623.9:c.7770C>G ENSP00000325527.5:p.Cys2590Trp
ENST00000559133.5:c.3139C>G
NM_000138.4:c.7770C>G , LRG_778t1:c.7770C>G NP_000129.3:p.Cys2590Trp
NM_000138.5:c.7770C>G MANE Select NP_000129.3:p.Cys2590Trp
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