Canonical Allele Identifier: CA2202659223

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3244497C= , CM000678.2:g.3244497C=	GRCh38
NC_000016.9:g.3294497C= , CM000678.1:g.3294497C=	GRCh37
NC_000016.8:g.3234498C=	NCBI36
NG_007871.1:g.17131G= , LRG_190:g.17131G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.823G=
ENST00000219596.6:c.1702G= MANE Select	ENSP00000219596.1:p.Glu568=
ENST00000219596.5:c.1702G=	ENSP00000219596.1:p.Glu568=
ENST00000339854.8:c.1162G=	ENSP00000339639.4:p.Glu388=
ENST00000536379.5:c.1069G=	ENSP00000445079.1:p.Glu357=
ENST00000536980.5:c.1069G=	ENSP00000444178.1:p.Glu357=
ENST00000537682.5:c.1702G=	ENSP00000438611.1:p.Glu568=
ENST00000538326.5:c.*327G=	ENSP00000437486.1:n.*327G=
ENST00000539145.5:c.623G=	ENSP00000444471.1:n.623G=
ENST00000541159.5:c.1069G=	ENSP00000438711.1:p.Glu357=
ENST00000542898.5:c.1795G=	ENSP00000444615.1:p.Glu599=
ENST00000570511.5:c.1165-605G=	ENSP00000458312.1:n.1165-605G=
ENST00000572244.5:c.392G=	ENSP00000461186.1:n.392G=
ENST00000574583.5:c.532-605G=	ENSP00000460269.1:n.532-605G=
ENST00000576315.5:c.532-211G=	ENSP00000460551.1:n.532-211G=
ENST00000621655.1:c.1069G=	ENSP00000481436.1:p.Glu357=
NM_000243.2:c.1702G= , LRG_190t1:c.1702G=	NP_000234.1:p.Glu568=
NM_001198536.1:c.1069G=	NP_001185465.1:p.Glu357=
XM_017023236.2:c.1699G=	XP_016878725.1:p.Glu567=
XR_001751903.1:n.1891G=
NM_000243.3:c.1702G= MANE Select	NP_000234.1:p.Glu568=
NM_001198536.2:c.1069G=	NP_001185465.2:p.Glu357=