Canonical Allele Identifier: CA280118
Gene: MEFV HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 2553
dbSNP Id: rs104895085

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3243529C>T , CM000678.2:g.3243529C>T GRCh38
NC_000016.9:g.3293529C>T , CM000678.1:g.3293529C>T GRCh37
NC_000016.8:g.3233530C>T NCBI36
NG_007871.1:g.18099G>A , LRG_190:g.18099G>A

Transcript Alleles

HGVS Amino-acid change
NM_000243.2:c.1958G>A , LRG_190t1:c.1958G>A NP_000234.1:p.Arg653His
NM_001198536.1:c.*162G>A VV NP_001185465.1:p.=
XM_017023236.2:c.1955G>A XP_016878725.1:p.Arg652His
ENST00000219596.5:c.1958G>A ENSP00000219596.1:p.Arg653His
ENST00000339854.8:c.1418G>A ENSP00000339639.4:p.Arg473His
ENST00000536379.5:n.1325G>A ENSP00000445079.1:p.Arg442His
ENST00000536980.5:c.*234G>A ENSP00000444178.1:p.=
ENST00000537682.5:c.*234G>A ENSP00000438611.1:p.=
ENST00000538326.5:c.*583G>A ENSP00000437486.1:p.=
ENST00000539145.5:n.879G>A ENSP00000444471.1:p.=
ENST00000541159.5:n.1500G>A ENSP00000438711.1:p.=
ENST00000542898.5:c.*234G>A ENSP00000444615.1:p.=
ENST00000570511.5:n.1363G>A ENSP00000458312.1:p.=
ENST00000572244.5:n.648G>A ENSP00000461186.1:p.=
ENST00000574583.5:n.730G>A ENSP00000460269.1:p.=
ENST00000576315.5:n.763G>A ENSP00000460551.1:p.=
ENST00000621655.1:n.1495G>A ENSP00000481436.1:p.=