Canonical Allele Identifier: CA2657290666
Gene: FBLN1 HGNC NCBI

Linked Data

gnomAD v4: 22-45565924-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.45565924T>C , CM000684.2:g.45565924T>C GRCh38
NC_000022.10:g.45961804T>C , CM000684.1:g.45961804T>C GRCh37
NC_000022.9:g.44340468T>C NCBI36
NG_023308.2:g.68086T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000327858.11:c.1698-8587T>C MANE Select ENSP00000331544.6:n.1698-8587T>C
ENST00000327858.10:c.1698-8587T>C ENSP00000331544.6:n.1698-8587T>C
NM_006486.2:c.1698-8587T>C NP_006477.2:n.1698-8587T>C
NM_006486.3:c.1698-8587T>C MANE Select NP_006477.3:n.1698-8587T>C
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