Canonical Allele Identifier: CA645294087

Gene: MEFV

Linked Data

• ClinVar Variation Id: 426837
• ClinVar RCV Id: RCV000488915 ; RCV003227767
• dbSNP Id: rs1085307824

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3249749_3249750delinsAT , CM000678.2:g.3249749_3249750delinsAT	GRCh38
NC_000016.9:g.3299749_3299750delinsAT , CM000678.1:g.3299749_3299750delinsAT	GRCh37
NC_000016.8:g.3239750_3239751delinsAT	NCBI36
NG_007871.1:g.11878_11879delinsAT , LRG_190:g.11878_11879delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219596.6:c.941_942delinsAT MANE Select	ENSP00000219596.1:p.Arg314His
ENST00000219596.5:c.941_942delinsAT	ENSP00000219596.1:p.Arg314His
ENST00000339854.8:c.401_402delinsAT	ENSP00000339639.4:p.Arg134His
ENST00000536379.5:c.308_309delinsAT	ENSP00000445079.1:p.Arg103His
ENST00000536980.5:c.308_309delinsAT	ENSP00000444178.1:p.Arg103His
ENST00000537682.5:c.941_942delinsAT	ENSP00000438611.1:p.Arg314His
ENST00000538326.5:c.941_942delinsAT	ENSP00000437486.1:p.Arg314His
ENST00000539145.5:c.278-2504_278-2503delinsAT	ENSP00000444471.1:n.278-2504_278-2503delinsAT
ENST00000541159.5:c.308_309delinsAT	ENSP00000438711.1:p.Arg103His
ENST00000542898.5:c.1034_1035delinsAT	ENSP00000444615.1:p.Arg345His
ENST00000570511.5:c.911-2504_911-2503delinsAT	ENSP00000458312.1:n.911-2504_911-2503delinsAT
ENST00000572244.5:c.278-3203_278-3202delinsAT	ENSP00000461186.1:n.278-3203_278-3202delinsAT
ENST00000574583.5:c.278-2504_278-2503delinsAT	ENSP00000460269.1:n.278-2504_278-2503delinsAT
ENST00000576315.5:c.278-2504_278-2503delinsAT	ENSP00000460551.1:n.278-2504_278-2503delinsAT
ENST00000621655.1:c.308_309delinsAT	ENSP00000481436.1:p.Arg103His
NM_000243.2:c.941_942delinsAT , LRG_190t1:c.941_942delinsAT	NP_000234.1:p.Arg314His
NM_001198536.1:c.308_309delinsAT	NP_001185465.1:p.Arg103His
XM_017023236.2:c.941_942delinsAT	XP_016878725.1:p.Arg314His
XR_001751903.1:n.1130_1131delinsAT
NM_000243.3:c.941_942delinsAT MANE Select	NP_000234.1:p.Arg314His
NM_001198536.2:c.308_309delinsAT	NP_001185465.2:p.Arg103His