Canonical Allele Identifier: CA392347328
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2193954
ClinVar RCV Id: RCV002647286 RCV003162020 RCV004009490
dbSNP Id: rs2043845529
MyVariant Identifiers: chr15:g.48812903G>A (hg19) chr15:g.48520706G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48520706G>A , CM000677.2:g.48520706G>A GRCh38
NC_000015.9:g.48812903G>A , CM000677.1:g.48812903G>A GRCh37
NC_000015.8:g.46600195G>A NCBI36
NG_008805.2:g.130083C>T , LRG_778:g.130083C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.1100C>T ENSP00000453958.2:p.Ser367Phe
ENST00000674301.2:c.1100C>T ENSP00000501333.2:p.Ser367Phe
ENST00000316623.10:c.1100C>T MANE Select ENSP00000325527.5:p.Ser367Phe
ENST00000316623.9:c.1100C>T ENSP00000325527.5:p.Ser367Phe
ENST00000537463.6:c.636+17005C>T ENSP00000440294.2:n.636+17005C>T
NM_000138.4:c.1100C>T , LRG_778t1:c.1100C>T NP_000129.3:p.Ser367Phe
NM_000138.5:c.1100C>T MANE Select NP_000129.3:p.Ser367Phe
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