Canonical Allele Identifier: CA2628325165
Gene: FBN1 HGNC NCBI

Linked Data

gnomAD v4: 15-48412495-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48412495T>G , CM000677.2:g.48412495T>G GRCh38
NC_000015.9:g.48704692T>G , CM000677.1:g.48704692T>G GRCh37
NC_000015.8:g.46491984T>G NCBI36
NG_008805.2:g.238294A>C , LRG_778:g.238294A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.*1034+74A>C ENSP00000453958.2:n.*1034+74A>C
ENST00000674301.2:c.*1739+74A>C ENSP00000501333.2:n.*1739+74A>C
ENST00000682158.1:n.1607+74A>C
ENST00000682170.1:n.2407+74A>C
ENST00000682767.1:n.1523+74A>C
ENST00000316623.10:c.8226+74A>C MANE Select ENSP00000325527.5:n.8226+74A>C
ENST00000674301.1:c.3392+74A>C ENSP00000501333.1:n.3392+74A>C
ENST00000316623.9:c.8226+74A>C ENSP00000325527.5:n.8226+74A>C
ENST00000559133.5:c.3595+74A>C
ENST00000561429.1:n.481+74A>C
NM_000138.4:c.8226+74A>C , LRG_778t1:c.8226+74A>C NP_000129.3:n.8226+74A>C
NM_000138.5:c.8226+74A>C MANE Select NP_000129.3:n.8226+74A>C
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