Canonical Allele Identifier: CA2202658600

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243331C= , CM000678.2:g.3243331C=	GRCh38
NC_000016.9:g.3293331C= , CM000678.1:g.3293331C=	GRCh37
NC_000016.8:g.3233332C=	NCBI36
NG_007871.1:g.18297G= , LRG_190:g.18297G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1277G=
ENST00000219596.6:c.2156G= MANE Select	ENSP00000219596.1:p.Gly719=
ENST00000219596.5:c.2156G=	ENSP00000219596.1:p.Gly719=
ENST00000339854.8:c.1616G=	ENSP00000339639.4:p.Gly539=
ENST00000536379.5:c.1523G=	ENSP00000445079.1:p.Gly508=
ENST00000536980.5:c.*432G=	ENSP00000444178.1:n.*432G=
ENST00000537682.5:c.*432G=	ENSP00000438611.1:n.*432G=
ENST00000538326.5:c.*781G=	ENSP00000437486.1:n.*781G=
ENST00000539145.5:c.1077G=	ENSP00000444471.1:n.1077G=
ENST00000541159.5:c.1698G=	ENSP00000438711.1:n.1698G=
ENST00000542898.5:c.*432G=	ENSP00000444615.1:n.*432G=
ENST00000570511.5:c.1561G=	ENSP00000458312.1:n.1561G=
ENST00000572244.5:c.846G=	ENSP00000461186.1:n.846G=
ENST00000574583.5:c.928G=	ENSP00000460269.1:n.928G=
ENST00000576315.5:c.961G=	ENSP00000460551.1:n.961G=
ENST00000621655.1:c.1693G=	ENSP00000481436.1:n.1693G=
NM_000243.2:c.2156G= , LRG_190t1:c.2156G=	NP_000234.1:p.Gly719=
NM_001198536.1:c.*360G=	NP_001185465.1:n.*360G=
XM_017023236.2:c.2153G=	XP_016878725.1:p.Gly718=
NM_000243.3:c.2156G= MANE Select	NP_000234.1:p.Gly719=
NM_001198536.2:c.*360G=	NP_001185465.2:n.*360G=