Canonical Allele Identifier: CA2657290945
Gene: FBLN1 HGNC NCBI

Linked Data

gnomAD v4: 22-45566031-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.45566031C>A , CM000684.2:g.45566031C>A GRCh38
NC_000022.10:g.45961911C>A , CM000684.1:g.45961911C>A GRCh37
NC_000022.9:g.44340575C>A NCBI36
NG_023308.2:g.68193C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000327858.11:c.1698-8480C>A MANE Select ENSP00000331544.6:n.1698-8480C>A
ENST00000327858.10:c.1698-8480C>A ENSP00000331544.6:n.1698-8480C>A
NM_006486.2:c.1698-8480C>A NP_006477.2:n.1698-8480C>A
NM_006486.3:c.1698-8480C>A MANE Select NP_006477.3:n.1698-8480C>A
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