Canonical Allele Identifier: CA392320130
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 565385
ClinVar RCV Id: RCV000684935 RCV003226371
dbSNP Id: rs1352478541
MyVariant Identifiers: chr15:g.48766490C>T (hg19) chr15:g.48474293C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48474293C>T , CM000677.2:g.48474293C>T GRCh38
NC_000015.9:g.48766490C>T , CM000677.1:g.48766490C>T GRCh37
NC_000015.8:g.46553782C>T NCBI36
NG_008805.2:g.176496G>A , LRG_778:g.176496G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.4172G>A ENSP00000453958.2:p.Cys1391Tyr
ENST00000674301.2:c.4172G>A ENSP00000501333.2:p.Cys1391Tyr
ENST00000684448.1:n.2846G>A
ENST00000316623.10:c.4172G>A MANE Select ENSP00000325527.5:p.Cys1391Tyr
ENST00000316623.9:c.4172G>A ENSP00000325527.5:p.Cys1391Tyr
ENST00000537463.6:c.844G>A ENSP00000440294.2:p.Ala282Thr
NM_000138.4:c.4172G>A , LRG_778t1:c.4172G>A NP_000129.3:p.Cys1391Tyr
NM_000138.5:c.4172G>A MANE Select NP_000129.3:p.Cys1391Tyr
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