Canonical Allele Identifier: CA10587204
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 255293
ClinVar RCV Id: RCV000254231
dbSNP Id: rs886038249
gnomAD v2: 15-48779396-G-A
gnomAD v4: 15-48487199-G-A
MyVariant Identifiers: chr15:g.48779396G>A (hg19) chr15:g.48487199G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48487199G>A , CM000677.2:g.48487199G>A GRCh38
NC_000015.9:g.48779396G>A , CM000677.1:g.48779396G>A GRCh37
NC_000015.8:g.46566688G>A NCBI36
NG_008805.2:g.163590C>T , LRG_778:g.163590C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.3465C>T ENSP00000453958.2:p.Asp1155=
ENST00000674301.2:c.3465C>T ENSP00000501333.2:p.Asp1155=
ENST00000684448.1:n.2139C>T
ENST00000316623.10:c.3465C>T MANE Select ENSP00000325527.5:p.Asp1155=
ENST00000316623.9:c.3465C>T ENSP00000325527.5:p.Asp1155=
ENST00000537463.6:c.637-12549C>T ENSP00000440294.2:n.637-12549C>T
NM_000138.4:c.3465C>T , LRG_778t1:c.3465C>T NP_000129.3:p.Asp1155=
NM_000138.5:c.3465C>T MANE Select NP_000129.3:p.Asp1155=
Search 100 bp 5'
Search 100 bp 3'