Canonical Allele Identifier: CA2202658625

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243369C= , CM000678.2:g.3243369C=	GRCh38
NC_000016.9:g.3293369C= , CM000678.1:g.3293369C=	GRCh37
NC_000016.8:g.3233370C=	NCBI36
NG_007871.1:g.18259G= , LRG_190:g.18259G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1239G=
ENST00000219596.6:c.2118G= MANE Select	ENSP00000219596.1:p.Pro706=
ENST00000219596.5:c.2118G=	ENSP00000219596.1:p.Pro706=
ENST00000339854.8:c.1578G=	ENSP00000339639.4:p.Pro526=
ENST00000536379.5:c.1485G=	ENSP00000445079.1:p.Pro495=
ENST00000536980.5:c.*394G=	ENSP00000444178.1:n.*394G=
ENST00000537682.5:c.*394G=	ENSP00000438611.1:n.*394G=
ENST00000538326.5:c.*743G=	ENSP00000437486.1:n.*743G=
ENST00000539145.5:c.1039G=	ENSP00000444471.1:n.1039G=
ENST00000541159.5:c.1660G=	ENSP00000438711.1:n.1660G=
ENST00000542898.5:c.*394G=	ENSP00000444615.1:n.*394G=
ENST00000570511.5:c.1523G=	ENSP00000458312.1:n.1523G=
ENST00000572244.5:c.808G=	ENSP00000461186.1:n.808G=
ENST00000574583.5:c.890G=	ENSP00000460269.1:n.890G=
ENST00000576315.5:c.923G=	ENSP00000460551.1:n.923G=
ENST00000621655.1:c.1655G=	ENSP00000481436.1:n.1655G=
NM_000243.2:c.2118G= , LRG_190t1:c.2118G=	NP_000234.1:p.Pro706=
NM_001198536.1:c.*322G=	NP_001185465.1:n.*322G=
XM_017023236.2:c.2115G=	XP_016878725.1:p.Pro705=
NM_000243.3:c.2118G= MANE Select	NP_000234.1:p.Pro706=
NM_001198536.2:c.*322G=	NP_001185465.2:n.*322G=