Canonical Allele Identifier: CA2408314485
Gene: FBLN1 HGNC NCBI

Linked Data

dbSNP Id: rs2088898800
gnomAD v4: 22-45566029-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.45566029A>G , CM000684.2:g.45566029A>G GRCh38
NC_000022.10:g.45961909A>G , CM000684.1:g.45961909A>G GRCh37
NC_000022.9:g.44340573A>G NCBI36
NG_023308.2:g.68191A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000327858.11:c.1698-8482A>G MANE Select ENSP00000331544.6:n.1698-8482A>G
ENST00000327858.10:c.1698-8482A>G ENSP00000331544.6:n.1698-8482A>G
NM_006486.2:c.1698-8482A>G NP_006477.2:n.1698-8482A>G
NM_006486.3:c.1698-8482A>G MANE Select NP_006477.3:n.1698-8482A>G
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