Canonical Allele Identifier: CA280116
Gene: MEFV HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 2552
dbSNP Id: rs11466024

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3249468C>T , CM000678.2:g.3249468C>T GRCh38
NC_000016.9:g.3299468C>T , CM000678.1:g.3299468C>T GRCh37
NC_000016.8:g.3239469C>T NCBI36
NG_007871.1:g.12160G>A , LRG_190:g.12160G>A

Transcript Alleles

HGVS Amino-acid change
NM_000243.2:c.1223G>A , LRG_190t1:c.1223G>A NP_000234.1:p.Arg408Gln
NM_001198536.1:c.590G>A VV NP_001185465.1:p.Arg197Gln
XM_017023236.2:c.1223G>A XP_016878725.1:p.Arg408Gln
XR_001751903.1:n.1412G>A
ENST00000219596.5:c.1223G>A ENSP00000219596.1:p.Arg408Gln
ENST00000339854.8:c.683G>A ENSP00000339639.4:p.Arg228Gln
ENST00000536379.5:n.590G>A ENSP00000445079.1:p.Arg197Gln
ENST00000536980.5:c.590G>A ENSP00000444178.1:p.Arg197Gln
ENST00000537682.5:c.1223G>A ENSP00000438611.1:p.Arg408Gln
ENST00000538326.5:c.1223G>A ENSP00000437486.1:p.Arg408Gln
ENST00000539145.5:n.278-2222G>A ENSP00000444471.1:p.=
ENST00000541159.5:n.590G>A ENSP00000438711.1:p.Arg197Gln
ENST00000542898.5:c.1316G>A ENSP00000444615.1:p.Arg439Gln
ENST00000570511.5:n.911-2222G>A ENSP00000458312.1:p.=
ENST00000572244.5:n.278-2921G>A ENSP00000461186.1:p.=
ENST00000574583.5:n.278-2222G>A ENSP00000460269.1:p.=
ENST00000576315.5:n.278-2222G>A ENSP00000460551.1:p.=
ENST00000621655.1:n.590G>A ENSP00000481436.1:p.Arg197Gln