Canonical Allele Identifier: CA392342490
Gene: FBN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48448877T>G , CM000677.2:g.48448877T>G GRCh38
NC_000015.9:g.48741074T>G , CM000677.1:g.48741074T>G GRCh37
NC_000015.8:g.46528366T>G NCBI36
NG_008805.2:g.201912A>C , LRG_778:g.201912A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5562A>C ENSP00000453958.2:p.Gln1854His
ENST00000674301.2:c.5562A>C ENSP00000501333.2:p.Gln1854His
ENST00000684448.1:n.4236A>C
ENST00000316623.10:c.5562A>C MANE Select ENSP00000325527.5:p.Gln1854His
ENST00000674301.1:c.561A>C ENSP00000501333.1:p.Gln187His
ENST00000316623.9:c.5562A>C ENSP00000325527.5:p.Gln1854His
ENST00000537463.6:c.*1325A>C ENSP00000440294.2:n.*1325A>C
ENST00000559133.5:c.869A>C
NM_000138.4:c.5562A>C , LRG_778t1:c.5562A>C NP_000129.3:p.Gln1854His
NM_000138.5:c.5562A>C MANE Select NP_000129.3:p.Gln1854His