Canonical Allele Identifier: CA490310929
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1148261
ClinVar RCV Id: RCV001488079 RCV003389877 RCV003528308
dbSNP Id: rs2141297416
gnomAD v4: 15-48490020-A-G
MyVariant Identifiers: chr15:g.48782217A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48490020A>G , CM000677.2:g.48490020A>G GRCh38
NC_000015.9:g.48782217A>G , CM000677.1:g.48782217A>G GRCh37
NC_000015.8:g.46569509A>G NCBI36
NG_008805.2:g.160769T>C , LRG_778:g.160769T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.2913T>C ENSP00000453958.2:p.Ile971=
ENST00000674301.2:c.2913T>C ENSP00000501333.2:p.Ile971=
ENST00000684448.1:n.1587T>C
ENST00000316623.10:c.2913T>C MANE Select ENSP00000325527.5:p.Ile971=
ENST00000316623.9:c.2913T>C ENSP00000325527.5:p.Ile971=
ENST00000537463.6:c.637-15370T>C ENSP00000440294.2:n.637-15370T>C
NM_000138.4:c.2913T>C , LRG_778t1:c.2913T>C NP_000129.3:p.Ile971=
NM_000138.5:c.2913T>C MANE Select NP_000129.3:p.Ile971=
Search 100 bp 5'
Search 100 bp 3'