Canonical Allele Identifier: CA017499
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 163486
ClinVar RCV Id: RCV000150707 RCV000338830 RCV000363432 RCV000246481 RCV000358510 RCV000303596 RCV000391023 RCV000391019 RCV000588579 RCV001084497
dbSNP Id: rs25397
ExAC: 15:48936888 C / T
gnomAD v2: 15-48936888-C-T
gnomAD v3: 15-48644691-C-T
gnomAD v4: 15-48644691-C-T
MyVariant Identifiers: chr15:g.48936888C>T (hg19) chr15:g.48644691C>T (hg38)
ERepo: CA017499/MONDO:0007947/022
PubMed: PMID:16835936 PMID:19839986
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48644691C>T , CM000677.2:g.48644691C>T GRCh38
NC_000015.9:g.48936888C>T , CM000677.1:g.48936888C>T GRCh37
NC_000015.8:g.46724180C>T NCBI36
NG_008805.2:g.6098G>A , LRG_778:g.6098G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.79G>A ENSP00000453958.2:p.Ala27Thr
ENST00000674301.2:c.79G>A ENSP00000501333.2:p.Ala27Thr
ENST00000316623.10:c.79G>A MANE Select ENSP00000325527.5:p.Ala27Thr
ENST00000316623.9:c.79G>A ENSP00000325527.5:p.Ala27Thr
ENST00000537463.6:c.79G>A ENSP00000440294.2:p.Ala27Thr
ENST00000558230.1:n.142G>A
ENST00000560355.1:c.79G>A ENSP00000453901.1:p.Ala27Thr
NM_000138.4:c.79G>A , LRG_778t1:c.79G>A NP_000129.3:p.Ala27Thr
NM_000138.5:c.79G>A MANE Select NP_000129.3:p.Ala27Thr
Search 100 bp 5'
Search 100 bp 3'