Canonical Allele Identifier: CA2202658644

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243403T= , CM000678.2:g.3243403T=	GRCh38
NC_000016.9:g.3293403T= , CM000678.1:g.3293403T=	GRCh37
NC_000016.8:g.3233404T=	NCBI36
NG_007871.1:g.18225A= , LRG_190:g.18225A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1205A=
ENST00000219596.6:c.2084A= MANE Select	ENSP00000219596.1:p.Lys695=
ENST00000219596.5:c.2084A=	ENSP00000219596.1:p.Lys695=
ENST00000339854.8:c.1544A=	ENSP00000339639.4:p.Lys515=
ENST00000536379.5:c.1451A=	ENSP00000445079.1:p.Lys484=
ENST00000536980.5:c.*360A=	ENSP00000444178.1:n.*360A=
ENST00000537682.5:c.*360A=	ENSP00000438611.1:n.*360A=
ENST00000538326.5:c.*709A=	ENSP00000437486.1:n.*709A=
ENST00000539145.5:c.1005A=	ENSP00000444471.1:n.1005A=
ENST00000541159.5:c.1626A=	ENSP00000438711.1:n.1626A=
ENST00000542898.5:c.*360A=	ENSP00000444615.1:n.*360A=
ENST00000570511.5:c.1489A=	ENSP00000458312.1:n.1489A=
ENST00000572244.5:c.774A=	ENSP00000461186.1:n.774A=
ENST00000574583.5:c.856A=	ENSP00000460269.1:n.856A=
ENST00000576315.5:c.889A=	ENSP00000460551.1:n.889A=
ENST00000621655.1:c.1621A=	ENSP00000481436.1:n.1621A=
NM_000243.2:c.2084A= , LRG_190t1:c.2084A=	NP_000234.1:p.Lys695=
NM_001198536.1:c.*288A=	NP_001185465.1:n.*288A=
XM_017023236.2:c.2081A=	XP_016878725.1:p.Lys694=
NM_000243.3:c.2084A= MANE Select	NP_000234.1:p.Lys695=
NM_001198536.2:c.*288A=	NP_001185465.2:n.*288A=