Canonical Allele Identifier: CA392342622
Gene: FBN1 HGNC NCBI

Linked Data

dbSNP Id: rs1323245073

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48448893T>C , CM000677.2:g.48448893T>C GRCh38
NC_000015.9:g.48741090T>C , CM000677.1:g.48741090T>C GRCh37
NC_000015.8:g.46528382T>C NCBI36
NG_008805.2:g.201896A>G , LRG_778:g.201896A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5546A>G ENSP00000453958.2:p.Asp1849Gly
ENST00000674301.2:c.5546A>G ENSP00000501333.2:p.Asp1849Gly
ENST00000684448.1:n.4220A>G
ENST00000316623.10:c.5546A>G MANE Select ENSP00000325527.5:p.Asp1849Gly
ENST00000674301.1:c.545A>G ENSP00000501333.1:p.Asp182Gly
ENST00000316623.9:c.5546A>G ENSP00000325527.5:p.Asp1849Gly
ENST00000537463.6:c.*1309A>G ENSP00000440294.2:n.*1309A>G
ENST00000559133.5:c.853A>G
NM_000138.4:c.5546A>G , LRG_778t1:c.5546A>G NP_000129.3:p.Asp1849Gly
NM_000138.5:c.5546A>G MANE Select NP_000129.3:p.Asp1849Gly