Canonical Allele Identifier: CA047539
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1171186
ClinVar RCV Id: RCV001524126
dbSNP Id: rs375366432
ExAC: 15:48788335 T / G
gnomAD v2: 15-48788335-T-G
gnomAD v3: 15-48496138-T-G
gnomAD v4: 15-48496138-T-G
MyVariant Identifiers: chr15:g.48788335T>G (hg19) chr15:g.48496138T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48496138T>G , CM000677.2:g.48496138T>G GRCh38
NC_000015.9:g.48788335T>G , CM000677.1:g.48788335T>G GRCh37
NC_000015.8:g.46575627T>G NCBI36
NG_008805.2:g.154651A>C , LRG_778:g.154651A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.2381A>C ENSP00000453958.2:p.Lys794Thr
ENST00000674301.2:c.2381A>C ENSP00000501333.2:p.Lys794Thr
ENST00000684448.1:n.1055A>C
ENST00000316623.10:c.2381A>C MANE Select ENSP00000325527.5:p.Lys794Thr
ENST00000316623.9:c.2381A>C ENSP00000325527.5:p.Lys794Thr
ENST00000537463.6:c.637-21488A>C ENSP00000440294.2:n.637-21488A>C
NM_000138.4:c.2381A>C , LRG_778t1:c.2381A>C NP_000129.3:p.Lys794Thr
NM_000138.5:c.2381A>C MANE Select NP_000129.3:p.Lys794Thr
Search 100 bp 5'
Search 100 bp 3'