Canonical Allele Identifier: CA10637675
Gene: MEFV HGNC NCBI

Linked Data

ClinVar Variation Id: 319090
ClinVar RCV Id: RCV000319508
dbSNP Id: rs60407399
gnomAD v2: 16-3292361-CA-C
gnomAD v3: 16-3242361-CA-C
gnomAD v4: 16-3242361-CA-C
MyVariant Identifiers: chr16:g.3292367del (hg19) chr16:g.3292362del (hg19) chr16:g.3242367del (hg38) chr16:g.3242362del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3242379del , CM000678.2:g.3242379del GRCh38
NC_000016.9:g.3292379del , CM000678.1:g.3292379del GRCh37
NC_000016.8:g.3232380del NCBI36
NG_007871.1:g.19266del , LRG_190:g.19266del

Transcript Alleles

HGVS Amino-acid Change
ENST00000219596.6:c.*779del MANE Select ENSP00000219596.1:n.*779del
ENST00000219596.5:c.*779del ENSP00000219596.1:n.*779del
ENST00000339854.8:c.*779del ENSP00000339639.4:n.*779del
ENST00000536980.5:c.*1401del ENSP00000444178.1:n.*1401del
ENST00000537682.5:c.*1401del ENSP00000438611.1:n.*1401del
ENST00000538326.5:c.*1750del ENSP00000437486.1:n.*1750del
ENST00000542898.5:c.*1401del ENSP00000444615.1:n.*1401del
NM_000243.2:c.*779del , LRG_190t1:c.*779del NP_000234.1:n.*779del
NM_001198536.1:c.*1329del NP_001185465.1:n.*1329del
NM_000243.3:c.*779del MANE Select NP_000234.1:n.*779del
NM_001198536.2:c.*1329del NP_001185465.2:n.*1329del
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