Canonical Allele Identifier: CA2628347796
Gene: FBN1 HGNC NCBI

Linked Data

gnomAD v4: 15-48446838-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48446838G>C , CM000677.2:g.48446838G>C GRCh38
NC_000015.9:g.48739035G>C , CM000677.1:g.48739035G>C GRCh37
NC_000015.8:g.46526327G>C NCBI36
NG_008805.2:g.203951C>G , LRG_778:g.203951C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5672-16C>G ENSP00000453958.2:n.5672-16C>G
ENST00000674301.2:c.5672-16C>G ENSP00000501333.2:n.5672-16C>G
ENST00000684448.1:n.4346-16C>G
ENST00000316623.10:c.5672-16C>G MANE Select ENSP00000325527.5:n.5672-16C>G
ENST00000674301.1:c.671-16C>G ENSP00000501333.1:n.671-16C>G
ENST00000316623.9:c.5672-16C>G ENSP00000325527.5:n.5672-16C>G
ENST00000537463.6:c.*1435-16C>G ENSP00000440294.2:n.*1435-16C>G
ENST00000559133.5:c.979-16C>G
NM_000138.4:c.5672-16C>G , LRG_778t1:c.5672-16C>G NP_000129.3:n.5672-16C>G
NM_000138.5:c.5672-16C>G MANE Select NP_000129.3:n.5672-16C>G
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