Canonical Allele Identifier: CA2202659226

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3244505T= , CM000678.2:g.3244505T=	GRCh38
NC_000016.9:g.3294505T= , CM000678.1:g.3294505T=	GRCh37
NC_000016.8:g.3234506T=	NCBI36
NG_007871.1:g.17123A= , LRG_190:g.17123A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.815A=
ENST00000219596.6:c.1694A= MANE Select	ENSP00000219596.1:p.Glu565=
ENST00000219596.5:c.1694A=	ENSP00000219596.1:p.Glu565=
ENST00000339854.8:c.1154A=	ENSP00000339639.4:p.Glu385=
ENST00000536379.5:c.1061A=	ENSP00000445079.1:p.Glu354=
ENST00000536980.5:c.1061A=	ENSP00000444178.1:p.Glu354=
ENST00000537682.5:c.1694A=	ENSP00000438611.1:p.Glu565=
ENST00000538326.5:c.*319A=	ENSP00000437486.1:n.*319A=
ENST00000539145.5:c.615A=	ENSP00000444471.1:n.615A=
ENST00000541159.5:c.1061A=	ENSP00000438711.1:p.Glu354=
ENST00000542898.5:c.1787A=	ENSP00000444615.1:p.Glu596=
ENST00000570511.5:c.1165-613A=	ENSP00000458312.1:n.1165-613A=
ENST00000572244.5:c.384A=	ENSP00000461186.1:n.384A=
ENST00000574583.5:c.532-613A=	ENSP00000460269.1:n.532-613A=
ENST00000576315.5:c.532-219A=	ENSP00000460551.1:n.532-219A=
ENST00000621655.1:c.1061A=	ENSP00000481436.1:p.Glu354=
NM_000243.2:c.1694A= , LRG_190t1:c.1694A=	NP_000234.1:p.Glu565=
NM_001198536.1:c.1061A=	NP_001185465.1:p.Glu354=
XM_017023236.2:c.1691A=	XP_016878725.1:p.Glu564=
XR_001751903.1:n.1883A=
NM_000243.3:c.1694A= MANE Select	NP_000234.1:p.Glu565=
NM_001198536.2:c.1061A=	NP_001185465.2:p.Glu354=