Canonical Allele Identifier: CA392327766
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48425413C>G , CM000677.2:g.48425413C>G GRCh38
NC_000015.9:g.48717610C>G , CM000677.1:g.48717610C>G GRCh37
NC_000015.8:g.46504902C>G NCBI36
NG_008805.2:g.225376G>C , LRG_778:g.225376G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.*217G>C ENSP00000453958.2:n.*217G>C
ENST00000674301.2:c.*922G>C ENSP00000501333.2:n.*922G>C
ENST00000682170.1:n.1590G>C
ENST00000682767.1:n.706G>C
ENST00000316623.10:c.7409G>C MANE Select ENSP00000325527.5:p.Cys2470Ser
ENST00000674301.1:c.2575G>C ENSP00000501333.1:n.2575G>C
ENST00000316623.9:c.7409G>C ENSP00000325527.5:p.Cys2470Ser
ENST00000559133.5:c.2778G>C
NM_000138.4:c.7409G>C , LRG_778t1:c.7409G>C NP_000129.3:p.Cys2470Ser
NM_000138.5:c.7409G>C MANE Select NP_000129.3:p.Cys2470Ser
Search 100 bp 5'
Search 100 bp 3'