Canonical Allele Identifier: CA2202662016

Gene: MEFV

Linked Data

• dbSNP Id: rs1167328352
• gnomAD v4: 16-3249663-T-TGG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3249667_3249668dup , CM000678.2:g.3249667_3249668dup	GRCh38
NC_000016.9:g.3299667_3299668dup , CM000678.1:g.3299667_3299668dup	GRCh37
NC_000016.8:g.3239668_3239669dup	NCBI36
NG_007871.1:g.11963_11964dup , LRG_190:g.11963_11964dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219596.6:c.1026_1027dup MANE Select	ENSP00000219596.1:p.Gln343ProfsTer26
ENST00000219596.5:c.1026_1027dup	ENSP00000219596.1:p.Gln343ProfsTer26
ENST00000339854.8:c.486_487dup	ENSP00000339639.4:p.Gln163ProfsTer26
ENST00000536379.5:c.393_394dup	ENSP00000445079.1:p.Gln132ProfsTer26
ENST00000536980.5:c.393_394dup	ENSP00000444178.1:p.Gln132ProfsTer26
ENST00000537682.5:c.1026_1027dup	ENSP00000438611.1:p.Gln343ProfsTer26
ENST00000538326.5:c.1026_1027dup	ENSP00000437486.1:p.Gln343ProfsTer26
ENST00000539145.5:c.278-2419_278-2418dup	ENSP00000444471.1:n.278-2419_278-2418dup
ENST00000541159.5:c.393_394dup	ENSP00000438711.1:p.Gln132ProfsTer26
ENST00000542898.5:c.1119_1120dup	ENSP00000444615.1:p.Gln374ProfsTer26
ENST00000570511.5:c.911-2419_911-2418dup	ENSP00000458312.1:n.911-2419_911-2418dup
ENST00000572244.5:c.278-3118_278-3117dup	ENSP00000461186.1:n.278-3118_278-3117dup
ENST00000574583.5:c.278-2419_278-2418dup	ENSP00000460269.1:n.278-2419_278-2418dup
ENST00000576315.5:c.278-2419_278-2418dup	ENSP00000460551.1:n.278-2419_278-2418dup
ENST00000621655.1:c.393_394dup	ENSP00000481436.1:p.Gln132ProfsTer26
NM_000243.2:c.1026_1027dup , LRG_190t1:c.1026_1027dup	NP_000234.1:p.Gln343ProfsTer26
NM_001198536.1:c.393_394dup	NP_001185465.1:p.Gln132ProfsTer26
XM_017023236.2:c.1026_1027dup	XP_016878725.1:p.Gln343ProfsTer26
XR_001751903.1:n.1215_1216dup
NM_000243.3:c.1026_1027dup MANE Select	NP_000234.1:p.Gln343ProfsTer26
NM_001198536.2:c.393_394dup	NP_001185465.2:p.Gln132ProfsTer26