Canonical Allele Identifier: CA2175521834
Gene: FBN1 HGNC NCBI

Linked Data

dbSNP Id: rs535379445
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48490147C>G , CM000677.2:g.48490147C>G GRCh38
NC_000015.9:g.48782344C>G , CM000677.1:g.48782344C>G GRCh37
NC_000015.8:g.46569636C>G NCBI36
NG_008805.2:g.160642G>C , LRG_778:g.160642G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.2855-69G>C ENSP00000453958.2:n.2855-69G>C
ENST00000674301.2:c.2855-69G>C ENSP00000501333.2:n.2855-69G>C
ENST00000684448.1:n.1529-69G>C
ENST00000316623.10:c.2855-69G>C MANE Select ENSP00000325527.5:n.2855-69G>C
ENST00000316623.9:c.2855-69G>C ENSP00000325527.5:n.2855-69G>C
ENST00000537463.6:c.637-15497G>C ENSP00000440294.2:n.637-15497G>C
NM_000138.4:c.2855-69G>C , LRG_778t1:c.2855-69G>C NP_000129.3:n.2855-69G>C
NM_000138.5:c.2855-69G>C MANE Select NP_000129.3:n.2855-69G>C
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