Canonical Allele Identifier: CA016751
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 36108
ClinVar RCV Id: RCV000029770 RCV000035254 RCV000245585 RCV000290449 RCV000330298 RCV000396165 RCV000384720 RCV000381701 RCV000514148 RCV000659571 RCV001085364
dbSNP Id: rs363835
ExAC: 15:48722907 G / A
gnomAD v2: 15-48722907-G-A
gnomAD v3: 15-48430710-G-A
gnomAD v4: 15-48430710-G-A
MyVariant Identifiers: chr15:g.48722907G>A (hg19) chr15:g.48430710G>A (hg38)
PubMed: PMID:19293843 PMID:23653584
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48430710G>A , CM000677.2:g.48430710G>A GRCh38
NC_000015.9:g.48722907G>A , CM000677.1:g.48722907G>A GRCh37
NC_000015.8:g.46510199G>A NCBI36
NG_008805.2:g.220079C>T , LRG_778:g.220079C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.6832C>T ENSP00000453958.2:p.Pro2278Ser
ENST00000674301.2:c.*283C>T ENSP00000501333.2:n.*283C>T
ENST00000682170.1:n.441C>T
ENST00000316623.10:c.6832C>T MANE Select ENSP00000325527.5:p.Pro2278Ser
ENST00000674301.1:c.1936C>T ENSP00000501333.1:n.1936C>T
ENST00000316623.9:c.6832C>T ENSP00000325527.5:p.Pro2278Ser
ENST00000559133.5:c.2139C>T
ENST00000560720.1:n.119C>T
NM_000138.4:c.6832C>T , LRG_778t1:c.6832C>T NP_000129.3:p.Pro2278Ser
NM_000138.5:c.6832C>T MANE Select NP_000129.3:p.Pro2278Ser
Search 100 bp 5'
Search 100 bp 3'