Canonical Allele Identifier: CA2575717412
Gene: FBN1 HGNC NCBI

Linked Data

gnomAD v4: 15-48513516-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48513516T>C , CM000677.2:g.48513516T>C GRCh38
NC_000015.9:g.48805713T>C , CM000677.1:g.48805713T>C GRCh37
NC_000015.8:g.46593005T>C NCBI36
NG_008805.2:g.137273A>G , LRG_778:g.137273A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.1588+33A>G ENSP00000453958.2:n.1588+33A>G
ENST00000674301.2:c.1588+33A>G ENSP00000501333.2:n.1588+33A>G
ENST00000684448.1:n.262+33A>G
ENST00000316623.10:c.1588+33A>G MANE Select ENSP00000325527.5:n.1588+33A>G
ENST00000316623.9:c.1588+33A>G ENSP00000325527.5:n.1588+33A>G
ENST00000537463.6:c.636+24195A>G ENSP00000440294.2:n.636+24195A>G
NM_000138.4:c.1588+33A>G , LRG_778t1:c.1588+33A>G NP_000129.3:n.1588+33A>G
NM_000138.5:c.1588+33A>G MANE Select NP_000129.3:n.1588+33A>G
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