Canonical Allele Identifier: CA656135934
Gene: FBN1 HGNC NCBI

Linked Data

COSMIC: COSN5755002 COSN5755003
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48492438A>G , CM000677.2:g.48492438A>G GRCh38
NC_000015.9:g.48784635A>G , CM000677.1:g.48784635A>G GRCh37
NC_000015.8:g.46571927A>G NCBI36
NG_008805.2:g.158351T>C , LRG_778:g.158351T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.2854+23T>C ENSP00000453958.2:n.2854+23T>C
ENST00000674301.2:c.2854+23T>C ENSP00000501333.2:n.2854+23T>C
ENST00000684448.1:n.1528+23T>C
ENST00000316623.10:c.2854+23T>C MANE Select ENSP00000325527.5:n.2854+23T>C
ENST00000316623.9:c.2854+23T>C ENSP00000325527.5:n.2854+23T>C
ENST00000537463.6:c.637-17788T>C ENSP00000440294.2:n.637-17788T>C
NM_000138.4:c.2854+23T>C , LRG_778t1:c.2854+23T>C NP_000129.3:n.2854+23T>C
NM_000138.5:c.2854+23T>C MANE Select NP_000129.3:n.2854+23T>C
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