Canonical Allele Identifier: CA057606
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 263695
ClinVar RCV Id: RCV000436882 RCV001182476 RCV001478494
dbSNP Id: rs372967546
ExAC: 15:48720598 G / A
gnomAD v2: 15-48720598-G-A
gnomAD v3: 15-48428401-G-A
gnomAD v4: 15-48428401-G-A
MyVariant Identifiers: chr15:g.48720598G>A (hg19) chr15:g.48428401G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48428401G>A , CM000677.2:g.48428401G>A GRCh38
NC_000015.9:g.48720598G>A , CM000677.1:g.48720598G>A GRCh37
NC_000015.8:g.46507890G>A NCBI36
NG_008805.2:g.222388C>T , LRG_778:g.222388C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.6942C>T ENSP00000453958.2:p.Tyr2314=
ENST00000674301.2:c.*393C>T ENSP00000501333.2:n.*393C>T
ENST00000682170.1:n.551C>T
ENST00000682767.1:n.177C>T
ENST00000316623.10:c.6942C>T MANE Select ENSP00000325527.5:p.Tyr2314=
ENST00000674301.1:c.2046C>T ENSP00000501333.1:n.2046C>T
ENST00000316623.9:c.6942C>T ENSP00000325527.5:p.Tyr2314=
ENST00000559133.5:c.2249C>T
ENST00000560720.1:n.229C>T
NM_000138.4:c.6942C>T , LRG_778t1:c.6942C>T NP_000129.3:p.Tyr2314=
NM_000138.5:c.6942C>T MANE Select NP_000129.3:p.Tyr2314=
Search 100 bp 5'
Search 100 bp 3'