Canonical Allele Identifier: CA1026219186
Gene: FBLN1 HGNC NCBI

Linked Data

dbSNP Id: rs2088897787
gnomAD v3: 22-45565926-G-C
gnomAD v4: 22-45565926-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.45565926G>C , CM000684.2:g.45565926G>C GRCh38
NC_000022.10:g.45961806G>C , CM000684.1:g.45961806G>C GRCh37
NC_000022.9:g.44340470G>C NCBI36
NG_023308.2:g.68088G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000327858.11:c.1698-8585G>C MANE Select ENSP00000331544.6:n.1698-8585G>C
ENST00000327858.10:c.1698-8585G>C ENSP00000331544.6:n.1698-8585G>C
NM_006486.2:c.1698-8585G>C NP_006477.2:n.1698-8585G>C
NM_006486.3:c.1698-8585G>C MANE Select NP_006477.3:n.1698-8585G>C
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