Canonical Allele Identifier: CA280105
Gene: MEFV HGNC NCBI

Linked Data

ClinVar Variation Id: 2547
ClinVar RCV Id: RCV001270033 RCV002262546 RCV003224087 RCV003389035
dbSNP Id: rs104895094
ExAC: 16:3293403 T / C
gnomAD v2: 16-3293403-T-C
gnomAD v3: 16-3243403-T-C
gnomAD v4: 16-3243403-T-C
MyVariant Identifiers: chr16:g.3293403T>C (hg19) chr16:g.3293403_3293406delinsCTCA (hg19) chr16:g.3243403T>C (hg38)
PubMed: PMID:4015155 PMID:5340644 PMID:9288758 PMID:9668175 PMID:10612841 PMID:11468188 PMID:15868622 PMID:16730661 PMID:16785446 PMID:20041150 PMID:20301405 PMID:20485448 PMID:21246368 PMID:21413889 PMID:22878273 PMID:23588594 PMID:23891399 PMID:24251727 PMID:24424166 PMID:24469716 PMID:24929125 PMID:25760918 PMID:28386255
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3243403T>C , CM000678.2:g.3243403T>C GRCh38
NC_000016.9:g.3293403T>C , CM000678.1:g.3293403T>C GRCh37
NC_000016.8:g.3233404T>C NCBI36
NG_007871.1:g.18225A>G , LRG_190:g.18225A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000697124.1:n.1205A>G
ENST00000219596.6:c.2084A>G MANE Select ENSP00000219596.1:p.Lys695Arg
ENST00000219596.5:c.2084A>G ENSP00000219596.1:p.Lys695Arg
ENST00000339854.8:c.1544A>G ENSP00000339639.4:p.Lys515Arg
ENST00000536379.5:c.1451A>G ENSP00000445079.1:p.Lys484Arg
ENST00000536980.5:c.*360A>G ENSP00000444178.1:n.*360A>G
ENST00000537682.5:c.*360A>G ENSP00000438611.1:n.*360A>G
ENST00000538326.5:c.*709A>G ENSP00000437486.1:n.*709A>G
ENST00000539145.5:c.1005A>G ENSP00000444471.1:n.1005A>G
ENST00000541159.5:c.1626A>G ENSP00000438711.1:n.1626A>G
ENST00000542898.5:c.*360A>G ENSP00000444615.1:n.*360A>G
ENST00000570511.5:c.1489A>G ENSP00000458312.1:n.1489A>G
ENST00000572244.5:c.774A>G ENSP00000461186.1:n.774A>G
ENST00000574583.5:c.856A>G ENSP00000460269.1:n.856A>G
ENST00000576315.5:c.889A>G ENSP00000460551.1:n.889A>G
ENST00000621655.1:c.1621A>G ENSP00000481436.1:n.1621A>G
NM_000243.2:c.2084A>G , LRG_190t1:c.2084A>G NP_000234.1:p.Lys695Arg
NM_001198536.1:c.*288A>G NP_001185465.1:n.*288A>G
XM_017023236.2:c.2081A>G XP_016878725.1:p.Lys694Arg
NM_000243.3:c.2084A>G MANE Select NP_000234.1:p.Lys695Arg
NM_001198536.2:c.*288A>G NP_001185465.2:n.*288A>G
Search 100 bp 5'
Search 100 bp 3'