Canonical Allele Identifier: CA325084306
Gene: FBLN1 HGNC NCBI

Linked Data

dbSNP Id: rs1033727757
gnomAD v3: 22-45566034-C-G
gnomAD v4: 22-45566034-C-G
MyVariant Identifiers: chr22:g.45961914C>G (hg19) chr22:g.45566034C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.45566034C>G , CM000684.2:g.45566034C>G GRCh38
NC_000022.10:g.45961914C>G , CM000684.1:g.45961914C>G GRCh37
NC_000022.9:g.44340578C>G NCBI36
NG_023308.2:g.68196C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000327858.11:c.1698-8477C>G MANE Select ENSP00000331544.6:n.1698-8477C>G
ENST00000327858.10:c.1698-8477C>G ENSP00000331544.6:n.1698-8477C>G
NM_006486.2:c.1698-8477C>G NP_006477.2:n.1698-8477C>G
NM_006486.3:c.1698-8477C>G MANE Select NP_006477.3:n.1698-8477C>G
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