Canonical Allele Identifier: CA269559050
Gene: FBN1 HGNC NCBI

Linked Data

dbSNP Id: rs4775765
MyVariant Identifiers: chr15:g.48515440T>C (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48515440T>C , CM000677.2:g.48515440T>C GRCh38
NG_008805.2:g.135349A>G , LRG_778:g.135349A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.1415A>G ENSP00000453958.2:p.Tyr472Cys
ENST00000674301.2:c.1415A>G ENSP00000501333.2:p.Tyr472Cys
ENST00000684448.1:n.89A>G
ENST00000316623.10:c.1415A>G MANE Select ENSP00000325527.5:p.Tyr472Cys
ENST00000316623.9:c.1415A>G ENSP00000325527.5:p.Tyr472Cys
ENST00000537463.6:c.636+22271A>G ENSP00000440294.2:n.636+22271A>G
NM_000138.4:c.1415A>G , LRG_778t1:c.1415A>G NP_000129.3:p.Tyr472Cys
NM_000138.5:c.1415A>G MANE Select NP_000129.3:p.Tyr472Cys