Canonical Allele Identifier: CA2628347816
Gene: FBN1 HGNC NCBI

Linked Data

gnomAD v4: 15-48446876-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48446876A>G , CM000677.2:g.48446876A>G GRCh38
NC_000015.9:g.48739073A>G , CM000677.1:g.48739073A>G GRCh37
NC_000015.8:g.46526365A>G NCBI36
NG_008805.2:g.203913T>C , LRG_778:g.203913T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5672-54T>C ENSP00000453958.2:n.5672-54T>C
ENST00000674301.2:c.5672-54T>C ENSP00000501333.2:n.5672-54T>C
ENST00000684448.1:n.4346-54T>C
ENST00000316623.10:c.5672-54T>C MANE Select ENSP00000325527.5:n.5672-54T>C
ENST00000674301.1:c.671-54T>C ENSP00000501333.1:n.671-54T>C
ENST00000316623.9:c.5672-54T>C ENSP00000325527.5:n.5672-54T>C
ENST00000537463.6:c.*1435-54T>C ENSP00000440294.2:n.*1435-54T>C
ENST00000559133.5:c.979-54T>C
NM_000138.4:c.5672-54T>C , LRG_778t1:c.5672-54T>C NP_000129.3:n.5672-54T>C
NM_000138.5:c.5672-54T>C MANE Select NP_000129.3:n.5672-54T>C
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