Canonical Allele Identifier: CA2202658570

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243267G= , CM000678.2:g.3243267G=	GRCh38
NC_000016.9:g.3293267G= , CM000678.1:g.3293267G=	GRCh37
NC_000016.8:g.3233268G=	NCBI36
NG_007871.1:g.18361C= , LRG_190:g.18361C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1341C=
ENST00000219596.6:c.2220C= MANE Select	ENSP00000219596.1:p.Ile740=
ENST00000219596.5:c.2220C=	ENSP00000219596.1:p.Ile740=
ENST00000339854.8:c.1680C=	ENSP00000339639.4:p.Ile560=
ENST00000536379.5:c.1587C=	ENSP00000445079.1:p.Ile529=
ENST00000536980.5:c.*496C=	ENSP00000444178.1:n.*496C=
ENST00000537682.5:c.*496C=	ENSP00000438611.1:n.*496C=
ENST00000538326.5:c.*845C=	ENSP00000437486.1:n.*845C=
ENST00000539145.5:c.1141C=	ENSP00000444471.1:n.1141C=
ENST00000541159.5:c.1762C=	ENSP00000438711.1:n.1762C=
ENST00000542898.5:c.*496C=	ENSP00000444615.1:n.*496C=
ENST00000570511.5:c.1625C=	ENSP00000458312.1:n.1625C=
ENST00000572244.5:c.910C=	ENSP00000461186.1:n.910C=
ENST00000574583.5:c.992C=	ENSP00000460269.1:n.992C=
ENST00000576315.5:c.1025C=	ENSP00000460551.1:n.1025C=
ENST00000621655.1:c.1757C=	ENSP00000481436.1:n.1757C=
NM_000243.2:c.2220C= , LRG_190t1:c.2220C=	NP_000234.1:p.Ile740=
NM_001198536.1:c.*424C=	NP_001185465.1:n.*424C=
XM_017023236.2:c.2217C=	XP_016878725.1:p.Ile739=
NM_000243.3:c.2220C= MANE Select	NP_000234.1:p.Ile740=
NM_001198536.2:c.*424C=	NP_001185465.2:n.*424C=