Canonical Allele Identifier: CA054198
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 921720
dbSNP Id: rs370287674

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48463895T>C , CM000677.2:g.48463895T>C GRCh38
NC_000015.9:g.48756092T>C , CM000677.1:g.48756092T>C GRCh37
NC_000015.8:g.46543384T>C NCBI36
NG_008805.2:g.186894A>G , LRG_778:g.186894A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5065+4A>G ENSP00000453958.2:n.5065+4A>G
ENST00000674301.2:c.5065+4A>G ENSP00000501333.2:n.5065+4A>G
ENST00000684448.1:n.3739+4A>G
ENST00000316623.10:c.5065+4A>G MANE Select ENSP00000325527.5:n.5065+4A>G
ENST00000674301.1:c.64+4A>G ENSP00000501333.1:n.64+4A>G
ENST00000316623.9:c.5065+4A>G ENSP00000325527.5:n.5065+4A>G
ENST00000537463.6:c.*828+4A>G ENSP00000440294.2:n.*828+4A>G
ENST00000559133.5:c.372+4A>G
NM_000138.4:c.5065+4A>G , LRG_778t1:c.5065+4A>G NP_000129.3:n.5065+4A>G
NM_000138.5:c.5065+4A>G MANE Select NP_000129.3:n.5065+4A>G