Canonical Allele Identifier: CA973872173

Gene: MEFV

Linked Data

• gnomAD v3: 16-3247181-C-CG
• gnomAD v4: 16-3247181-C-CG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3247181_3247182insG , CM000678.2:g.3247181_3247182insG	GRCh38
NC_000016.9:g.3297181_3297182insG , CM000678.1:g.3297181_3297182insG	GRCh37
NC_000016.8:g.3237182_3237183insG	NCBI36
NG_007871.1:g.14446_14447insC , LRG_190:g.14446_14447insC

Transcript Alleles

HGVS	Amino-acid change
ENST00000219596.6:c.1421_1422insC MANE Select	ENSP00000219596.1:p.Glu474AspfsTer26
ENST00000219596.5:c.1421_1422insC	ENSP00000219596.1:p.Glu474AspfsTer26
ENST00000339854.8:c.881_882insC	ENSP00000339639.4:p.Glu294AspfsTer26
ENST00000536379.5:c.788_789insC	ENSP00000445079.1:p.Glu263AspfsTer26
ENST00000536980.5:c.788_789insC	ENSP00000444178.1:p.Glu263AspfsTer26
ENST00000537682.5:c.1421_1422insC	ENSP00000438611.1:p.Glu474AspfsTer26
ENST00000538326.5:c.*46_*47insC	ENSP00000437486.1:n.*46_*47insC
ENST00000539145.5:c.342_343insC	ENSP00000444471.1:n.342_343insC
ENST00000539154.1:n.786_787insC
ENST00000541159.5:c.788_789insC	ENSP00000438711.1:p.Glu263AspfsTer26
ENST00000542898.5:c.1514_1515insC	ENSP00000444615.1:p.Glu505AspfsTer26
ENST00000570511.5:c.975_976insC	ENSP00000458312.1:n.975_976insC
ENST00000572244.5:c.278-635_278-634insC	ENSP00000461186.1:n.278-635_278-634insC
ENST00000574583.5:c.342_343insC	ENSP00000460269.1:n.342_343insC
ENST00000576315.5:c.342_343insC	ENSP00000460551.1:n.342_343insC
ENST00000621655.1:c.788_789insC	ENSP00000481436.1:p.Glu263AspfsTer26
NM_000243.2:c.1421_1422insC , LRG_190t1:c.1421_1422insC	NP_000234.1:p.Glu474AspfsTer26
NM_001198536.1:c.788_789insC	NP_001185465.1:p.Glu263AspfsTer26
XM_017023236.2:c.1418_1419insC	XP_016878725.1:p.Glu473AspfsTer26
XR_001751903.1:n.1610_1611insC
NM_000243.3:c.1421_1422insC MANE Select	NP_000234.1:p.Glu474AspfsTer26
NM_001198536.2:c.788_789insC	NP_001185465.2:p.Glu263AspfsTer26