Canonical Allele Identifier: CA2202658592

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243318G= , CM000678.2:g.3243318G=	GRCh38
NC_000016.9:g.3293318G= , CM000678.1:g.3293318G=	GRCh37
NC_000016.8:g.3233319G=	NCBI36
NG_007871.1:g.18310C= , LRG_190:g.18310C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1290C=
ENST00000219596.6:c.2169C= MANE Select	ENSP00000219596.1:p.Asp723=
ENST00000219596.5:c.2169C=	ENSP00000219596.1:p.Asp723=
ENST00000339854.8:c.1629C=	ENSP00000339639.4:p.Asp543=
ENST00000536379.5:c.1536C=	ENSP00000445079.1:p.Asp512=
ENST00000536980.5:c.*445C=	ENSP00000444178.1:n.*445C=
ENST00000537682.5:c.*445C=	ENSP00000438611.1:n.*445C=
ENST00000538326.5:c.*794C=	ENSP00000437486.1:n.*794C=
ENST00000539145.5:c.1090C=	ENSP00000444471.1:n.1090C=
ENST00000541159.5:c.1711C=	ENSP00000438711.1:n.1711C=
ENST00000542898.5:c.*445C=	ENSP00000444615.1:n.*445C=
ENST00000570511.5:c.1574C=	ENSP00000458312.1:n.1574C=
ENST00000572244.5:c.859C=	ENSP00000461186.1:n.859C=
ENST00000574583.5:c.941C=	ENSP00000460269.1:n.941C=
ENST00000576315.5:c.974C=	ENSP00000460551.1:n.974C=
ENST00000621655.1:c.1706C=	ENSP00000481436.1:n.1706C=
NM_000243.2:c.2169C= , LRG_190t1:c.2169C=	NP_000234.1:p.Asp723=
NM_001198536.1:c.*373C=	NP_001185465.1:n.*373C=
XM_017023236.2:c.2166C=	XP_016878725.1:p.Asp722=
NM_000243.3:c.2169C= MANE Select	NP_000234.1:p.Asp723=
NM_001198536.2:c.*373C=	NP_001185465.2:n.*373C=