Canonical Allele Identifier: CA392320003
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2573965
ClinVar RCV Id: RCV003318301 RCV004009735
gnomAD v4: 15-48474276-C-T
MyVariant Identifiers: chr15:g.48766473C>T (hg19) chr15:g.48474276C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48474276C>T , CM000677.2:g.48474276C>T GRCh38
NC_000015.9:g.48766473C>T , CM000677.1:g.48766473C>T GRCh37
NC_000015.8:g.46553765C>T NCBI36
NG_008805.2:g.176513G>A , LRG_778:g.176513G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.4189G>A ENSP00000453958.2:p.Gly1397Ser
ENST00000674301.2:c.4189G>A ENSP00000501333.2:p.Gly1397Ser
ENST00000684448.1:n.2863G>A
ENST00000316623.10:c.4189G>A MANE Select ENSP00000325527.5:p.Gly1397Ser
ENST00000316623.9:c.4189G>A ENSP00000325527.5:p.Gly1397Ser
ENST00000537463.6:c.861G>A ENSP00000440294.2:p.Gln287=
NM_000138.4:c.4189G>A , LRG_778t1:c.4189G>A NP_000129.3:p.Gly1397Ser
NM_000138.5:c.4189G>A MANE Select NP_000129.3:p.Gly1397Ser
Search 100 bp 5'
Search 100 bp 3'