Canonical Allele Identifier: CA014329
Community Standard Title: NM_000138.5(FBN1):c.3589G>C (p.Asp1197His)
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48487075C>G , CM000677.2:g.48487075C>G GRCh38
NC_000015.9:g.48779272C>G , CM000677.1:g.48779272C>G GRCh37
NC_000015.8:g.46566564C>G NCBI36
NG_008805.2:g.163714G>C , LRG_778:g.163714G>C

Transcript Alleles

HGVS Amino-acid Change
NM_000138.5:c.3589G>C MANE Select NP_000129.3:p.Asp1197His
ENST00000316623.10:c.3589G>C MANE Select ENSP00000325527.5:p.Asp1197His
NM_000138.4:c.3589G>C , LRG_778t1:c.3589G>C NP_000129.3:p.Asp1197His
ENST00000316623.9:c.3589G>C ENSP00000325527.5:p.Asp1197His
ENST00000537463.6:c.637-12425G>C ENSP00000440294.2:n.637-12425G>C
ENST00000559133.6:c.3589G>C ENSP00000453958.2:p.Asp1197His
ENST00000674301.2:c.3589G>C ENSP00000501333.2:p.Asp1197His
ENST00000684448.1:n.2263G>C
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