Canonical Allele Identifier: CA392353815
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 850247
ClinVar RCV Id: RCV001054375
dbSNP Id: rs2043341806

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48468525T>C , CM000677.2:g.48468525T>C GRCh38
NC_000015.9:g.48760722T>C , CM000677.1:g.48760722T>C GRCh37
NC_000015.8:g.46548014T>C NCBI36
NG_008805.2:g.182264A>G , LRG_778:g.182264A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.4469A>G ENSP00000453958.2:p.Glu1490Gly
ENST00000674301.2:c.4469A>G ENSP00000501333.2:p.Glu1490Gly
ENST00000684448.1:n.3143A>G
ENST00000316623.10:c.4469A>G MANE Select ENSP00000325527.5:p.Glu1490Gly
ENST00000316623.9:c.4469A>G ENSP00000325527.5:p.Glu1490Gly
ENST00000537463.6:c.*232A>G ENSP00000440294.2:n.*232A>G
NM_000138.4:c.4469A>G , LRG_778t1:c.4469A>G NP_000129.3:p.Glu1490Gly
NM_000138.5:c.4469A>G MANE Select NP_000129.3:p.Glu1490Gly