Canonical Allele Identifier: CA392341228
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 495558
ClinVar RCV Id: RCV000587875 RCV001045370
dbSNP Id: rs1555400063
MyVariant Identifiers: chr15:g.48802325C>T (hg19) chr15:g.48510128C>T (hg38)
PubMed: PMID:19802897
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48510128C>T , CM000677.2:g.48510128C>T GRCh38
NC_000015.9:g.48802325C>T , CM000677.1:g.48802325C>T GRCh37
NC_000015.8:g.46589617C>T NCBI36
NG_008805.2:g.140661G>A , LRG_778:g.140661G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.1630G>A ENSP00000453958.2:p.Gly544Arg
ENST00000674301.2:c.1630G>A ENSP00000501333.2:p.Gly544Arg
ENST00000684448.1:n.304G>A
ENST00000316623.10:c.1630G>A MANE Select ENSP00000325527.5:p.Gly544Arg
ENST00000316623.9:c.1630G>A ENSP00000325527.5:p.Gly544Arg
ENST00000537463.6:c.636+27583G>A ENSP00000440294.2:n.636+27583G>A
NM_000138.4:c.1630G>A , LRG_778t1:c.1630G>A NP_000129.3:p.Gly544Arg
NM_000138.5:c.1630G>A MANE Select NP_000129.3:p.Gly544Arg
Search 100 bp 5'
Search 100 bp 3'