Canonical Allele Identifier: CA2202659122

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3244283G= , CM000678.2:g.3244283G=	GRCh38
NC_000016.9:g.3294283G= , CM000678.1:g.3294283G=	GRCh37
NC_000016.8:g.3234284G=	NCBI36
NG_007871.1:g.17345C= , LRG_190:g.17345C=

Transcript Alleles

HGVS	Amino-acid Change
NM_000243.3:c.1730C= MANE Select	NP_000234.1:p.Thr577=
ENST00000219596.6:c.1730C= MANE Select	ENSP00000219596.1:p.Thr577=
NM_000243.2:c.1730C= , LRG_190t1:c.1730C=	NP_000234.1:p.Thr577=
NM_001198536.1:c.1097C=	NP_001185465.1:p.Thr366=
NM_001198536.2:c.1097C=	NP_001185465.2:p.Thr366=
ENST00000219596.5:c.1730C=	ENSP00000219596.1:p.Thr577=
ENST00000339854.8:c.1190C=	ENSP00000339639.4:p.Thr397=
ENST00000536379.5:c.1097C=	ENSP00000445079.1:p.Thr366=
ENST00000536980.5:c.1097C=	ENSP00000444178.1:p.Thr366=
ENST00000537682.5:c.1730C=	ENSP00000438611.1:p.Thr577=
ENST00000538326.5:c.*355C=	ENSP00000437486.1:n.*355C=
ENST00000539145.5:c.651C=	ENSP00000444471.1:n.651C=
ENST00000541159.5:c.1097C=	ENSP00000438711.1:p.Thr366=
ENST00000542898.5:c.1823C=	ENSP00000444615.1:p.Thr608=
ENST00000570511.5:c.1165-391C=	ENSP00000458312.1:n.1165-391C=
ENST00000572244.5:c.420C=	ENSP00000461186.1:n.420C=
ENST00000574583.5:c.532-391C=	ENSP00000460269.1:n.532-391C=
ENST00000576315.5:c.535C=	ENSP00000460551.1:n.535C=
ENST00000621655.1:c.1097C=	ENSP00000481436.1:p.Thr366=
ENST00000697124.1:n.851C=
XM_017023236.2:c.1727C=	XP_016878725.1:p.Thr576=
XR_001751903.1:n.1919C=