Canonical Allele Identifier: CA2202658705

Gene: MEFV

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_000243.3:c.1958G= MANE Select	NP_000234.1:p.Arg653=
ENST00000219596.6:c.1958G= MANE Select	ENSP00000219596.1:p.Arg653=
NM_000243.2:c.1958G= , LRG_190t1:c.1958G=	NP_000234.1:p.Arg653=
NM_001198536.1:c.*162G=	NP_001185465.1:n.*162G=
NM_001198536.2:c.*162G=	NP_001185465.2:n.*162G=
ENST00000219596.5:c.1958G=	ENSP00000219596.1:p.Arg653=
ENST00000339854.8:c.1418G=	ENSP00000339639.4:p.Arg473=
ENST00000536379.5:c.1325G=	ENSP00000445079.1:p.Arg442=
ENST00000536980.5:c.*234G=	ENSP00000444178.1:n.*234G=
ENST00000537682.5:c.*234G=	ENSP00000438611.1:n.*234G=
ENST00000538326.5:c.*583G=	ENSP00000437486.1:n.*583G=
ENST00000539145.5:c.879G=	ENSP00000444471.1:n.879G=
ENST00000541159.5:c.1500G=	ENSP00000438711.1:n.1500G=
ENST00000542898.5:c.*234G=	ENSP00000444615.1:n.*234G=
ENST00000570511.5:c.1363G=	ENSP00000458312.1:n.1363G=
ENST00000572244.5:c.648G=	ENSP00000461186.1:n.648G=
ENST00000574583.5:c.730G=	ENSP00000460269.1:n.730G=
ENST00000576315.5:c.763G=	ENSP00000460551.1:n.763G=
ENST00000621655.1:c.1495G=	ENSP00000481436.1:n.1495G=
ENST00000697124.1:n.1079G=
XM_017023236.2:c.1955G=	XP_016878725.1:p.Arg652=