Canonical Allele Identifier: CA392320359
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 527159
ClinVar RCV Id: RCV000631932
dbSNP Id: rs1555397670
MyVariant Identifiers: chr15:g.48766563A>T (hg19) chr15:g.48474366A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48474366A>T , CM000677.2:g.48474366A>T GRCh38
NC_000015.9:g.48766563A>T , CM000677.1:g.48766563A>T GRCh37
NC_000015.8:g.46553855A>T NCBI36
NG_008805.2:g.176423T>A , LRG_778:g.176423T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.4099T>A ENSP00000453958.2:p.Cys1367Ser
ENST00000674301.2:c.4099T>A ENSP00000501333.2:p.Cys1367Ser
ENST00000684448.1:n.2773T>A
ENST00000316623.10:c.4099T>A MANE Select ENSP00000325527.5:p.Cys1367Ser
ENST00000316623.9:c.4099T>A ENSP00000325527.5:p.Cys1367Ser
ENST00000537463.6:c.771T>A ENSP00000440294.2:p.Asn257Lys
NM_000138.4:c.4099T>A , LRG_778t1:c.4099T>A NP_000129.3:p.Cys1367Ser
NM_000138.5:c.4099T>A MANE Select NP_000129.3:p.Cys1367Ser
Search 100 bp 5'
Search 100 bp 3'