Canonical Allele Identifier: CA392347594
Gene: FBN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48520735C>G , CM000677.2:g.48520735C>G GRCh38
NC_000015.9:g.48812932C>G , CM000677.1:g.48812932C>G GRCh37
NC_000015.8:g.46600224C>G NCBI36
NG_008805.2:g.130054G>C , LRG_778:g.130054G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.1071G>C ENSP00000453958.2:p.Gln357His
ENST00000674301.2:c.1071G>C ENSP00000501333.2:p.Gln357His
ENST00000316623.10:c.1071G>C MANE Select ENSP00000325527.5:p.Gln357His
ENST00000316623.9:c.1071G>C ENSP00000325527.5:p.Gln357His
ENST00000537463.6:c.636+16976G>C ENSP00000440294.2:n.636+16976G>C
NM_000138.4:c.1071G>C , LRG_778t1:c.1071G>C NP_000129.3:p.Gln357His
NM_000138.5:c.1071G>C MANE Select NP_000129.3:p.Gln357His