Canonical Allele Identifier: CA392340272
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 527199
ClinVar RCV Id: RCV000631995 RCV001190262 RCV002483785
dbSNP Id: rs1555395768
gnomAD v4: 15-48445502-C-T
MyVariant Identifiers: chr15:g.48737699C>T (hg19) chr15:g.48445502C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48445502C>T , CM000677.2:g.48445502C>T GRCh38
NC_000015.9:g.48737699C>T , CM000677.1:g.48737699C>T GRCh37
NC_000015.8:g.46524991C>T NCBI36
NG_008805.2:g.205287G>A , LRG_778:g.205287G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5791G>A ENSP00000453958.2:p.Val1931Ile
ENST00000674301.2:c.5791G>A ENSP00000501333.2:p.Val1931Ile
ENST00000684448.1:n.4465G>A
ENST00000316623.10:c.5791G>A MANE Select ENSP00000325527.5:p.Val1931Ile
ENST00000674301.1:c.790G>A ENSP00000501333.1:p.Val264Ile
ENST00000316623.9:c.5791G>A ENSP00000325527.5:p.Val1931Ile
ENST00000537463.6:c.*1554G>A ENSP00000440294.2:n.*1554G>A
ENST00000559133.5:c.1098G>A
NM_000138.4:c.5791G>A , LRG_778t1:c.5791G>A NP_000129.3:p.Val1931Ile
NM_000138.5:c.5791G>A MANE Select NP_000129.3:p.Val1931Ile
Search 100 bp 5'
Search 100 bp 3'