Canonical Allele Identifier: CA392320175
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1464721
ClinVar RCV Id: RCV001956960
dbSNP Id: rs770860280
MyVariant Identifiers: chr15:g.48766500G>T (hg19) chr15:g.48474303G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48474303G>T , CM000677.2:g.48474303G>T GRCh38
NC_000015.9:g.48766500G>T , CM000677.1:g.48766500G>T GRCh37
NC_000015.8:g.46553792G>T NCBI36
NG_008805.2:g.176486C>A , LRG_778:g.176486C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.4162C>A ENSP00000453958.2:p.Arg1388Ser
ENST00000674301.2:c.4162C>A ENSP00000501333.2:p.Arg1388Ser
ENST00000684448.1:n.2836C>A
ENST00000316623.10:c.4162C>A MANE Select ENSP00000325527.5:p.Arg1388Ser
ENST00000316623.9:c.4162C>A ENSP00000325527.5:p.Arg1388Ser
ENST00000537463.6:c.834C>A ENSP00000440294.2:p.Thr278=
NM_000138.4:c.4162C>A , LRG_778t1:c.4162C>A NP_000129.3:p.Arg1388Ser
NM_000138.5:c.4162C>A MANE Select NP_000129.3:p.Arg1388Ser
Search 100 bp 5'
Search 100 bp 3'