Canonical Allele Identifier: CA2804070537
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48430574C>G , CM000677.2:g.48430574C>G GRCh38
NC_000015.9:g.48722771C>G , CM000677.1:g.48722771C>G GRCh37
NC_000015.8:g.46510063C>G NCBI36
NG_008805.2:g.220215G>C , LRG_778:g.220215G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.6871+97G>C ENSP00000453958.2:n.6871+97G>C
ENST00000674301.2:c.*322+97G>C ENSP00000501333.2:n.*322+97G>C
ENST00000682170.1:n.480+97G>C
ENST00000316623.10:c.6871+97G>C MANE Select ENSP00000325527.5:n.6871+97G>C
ENST00000674301.1:c.1975+97G>C ENSP00000501333.1:n.1975+97G>C
ENST00000316623.9:c.6871+97G>C ENSP00000325527.5:n.6871+97G>C
ENST00000559133.5:c.2178+97G>C
ENST00000560720.1:n.158+97G>C
NM_000138.4:c.6871+97G>C , LRG_778t1:c.6871+97G>C NP_000129.3:n.6871+97G>C
NM_000138.5:c.6871+97G>C MANE Select NP_000129.3:n.6871+97G>C
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