Canonical Allele Identifier: CA2628347651
Gene: FBN1 HGNC NCBI

Linked Data

gnomAD v4: 15-48445550-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48445550C>A , CM000677.2:g.48445550C>A GRCh38
NC_000015.9:g.48737747C>A , CM000677.1:g.48737747C>A GRCh37
NC_000015.8:g.46525039C>A NCBI36
NG_008805.2:g.205239G>T , LRG_778:g.205239G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5789-46G>T ENSP00000453958.2:n.5789-46G>T
ENST00000674301.2:c.5789-46G>T ENSP00000501333.2:n.5789-46G>T
ENST00000684448.1:n.4463-46G>T
ENST00000316623.10:c.5789-46G>T MANE Select ENSP00000325527.5:n.5789-46G>T
ENST00000674301.1:c.788-46G>T ENSP00000501333.1:n.788-46G>T
ENST00000316623.9:c.5789-46G>T ENSP00000325527.5:n.5789-46G>T
ENST00000537463.6:c.*1552-46G>T ENSP00000440294.2:n.*1552-46G>T
ENST00000559133.5:c.1096-46G>T
NM_000138.4:c.5789-46G>T , LRG_778t1:c.5789-46G>T NP_000129.3:n.5789-46G>T
NM_000138.5:c.5789-46G>T MANE Select NP_000129.3:n.5789-46G>T
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