Canonical Allele Identifier: CA392347799
Gene: FBN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48520770A>C , CM000677.2:g.48520770A>C GRCh38
NC_000015.9:g.48812967A>C , CM000677.1:g.48812967A>C GRCh37
NC_000015.8:g.46600259A>C NCBI36
NG_008805.2:g.130019T>G , LRG_778:g.130019T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.1036T>G ENSP00000453958.2:p.Ser346Ala
ENST00000674301.2:c.1036T>G ENSP00000501333.2:p.Ser346Ala
ENST00000316623.10:c.1036T>G MANE Select ENSP00000325527.5:p.Ser346Ala
ENST00000316623.9:c.1036T>G ENSP00000325527.5:p.Ser346Ala
ENST00000537463.6:c.636+16941T>G ENSP00000440294.2:n.636+16941T>G
NM_000138.4:c.1036T>G , LRG_778t1:c.1036T>G NP_000129.3:p.Ser346Ala
NM_000138.5:c.1036T>G MANE Select NP_000129.3:p.Ser346Ala