Canonical Allele Identifier: CA2202658881

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243875C= , CM000678.2:g.3243875C=	GRCh38
NC_000016.9:g.3293875C= , CM000678.1:g.3293875C=	GRCh37
NC_000016.8:g.3233876C=	NCBI36
NG_007871.1:g.17753G= , LRG_190:g.17753G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.898G=
ENST00000219596.6:c.1777G= MANE Select	ENSP00000219596.1:p.Ala593=
ENST00000219596.5:c.1777G=	ENSP00000219596.1:p.Ala593=
ENST00000339854.8:c.1237G=	ENSP00000339639.4:p.Ala413=
ENST00000536379.5:c.1144G=	ENSP00000445079.1:p.Ala382=
ENST00000536980.5:c.*53G=	ENSP00000444178.1:n.*53G=
ENST00000537682.5:c.*53G=	ENSP00000438611.1:n.*53G=
ENST00000538326.5:c.*402G=	ENSP00000437486.1:n.*402G=
ENST00000539145.5:c.698G=	ENSP00000444471.1:n.698G=
ENST00000541159.5:c.1319G=	ENSP00000438711.1:p.Arg440=
ENST00000542898.5:c.*53G=	ENSP00000444615.1:n.*53G=
ENST00000570511.5:c.1182G=	ENSP00000458312.1:n.1182G=
ENST00000572244.5:c.467G=	ENSP00000461186.1:n.467G=
ENST00000574583.5:c.549G=	ENSP00000460269.1:n.549G=
ENST00000576315.5:c.582G=	ENSP00000460551.1:n.582G=
ENST00000621655.1:c.1314G=	ENSP00000481436.1:n.1314G=
NM_000243.2:c.1777G= , LRG_190t1:c.1777G=	NP_000234.1:p.Ala593=
NM_001198536.1:c.1319G=	NP_001185465.1:p.Arg440=
XM_017023236.2:c.1774G=	XP_016878725.1:p.Ala592=
XR_001751903.1:n.2084G=
NM_000243.3:c.1777G= MANE Select	NP_000234.1:p.Ala593=
NM_001198536.2:c.1319G=	NP_001185465.2:p.Arg440=