Canonical Allele Identifier: CA2202659232

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3244512T= , CM000678.2:g.3244512T=	GRCh38
NC_000016.9:g.3294512T= , CM000678.1:g.3294512T=	GRCh37
NC_000016.8:g.3234513T=	NCBI36
NG_007871.1:g.17116A= , LRG_190:g.17116A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.808A=
ENST00000219596.6:c.1687A= MANE Select	ENSP00000219596.1:p.Lys563=
ENST00000219596.5:c.1687A=	ENSP00000219596.1:p.Lys563=
ENST00000339854.8:c.1147A=	ENSP00000339639.4:p.Lys383=
ENST00000536379.5:c.1054A=	ENSP00000445079.1:p.Lys352=
ENST00000536980.5:c.1054A=	ENSP00000444178.1:p.Lys352=
ENST00000537682.5:c.1687A=	ENSP00000438611.1:p.Lys563=
ENST00000538326.5:c.*312A=	ENSP00000437486.1:n.*312A=
ENST00000539145.5:c.608A=	ENSP00000444471.1:n.608A=
ENST00000541159.5:c.1054A=	ENSP00000438711.1:p.Lys352=
ENST00000542898.5:c.1780A=	ENSP00000444615.1:p.Lys594=
ENST00000570511.5:c.1165-620A=	ENSP00000458312.1:n.1165-620A=
ENST00000572244.5:c.377A=	ENSP00000461186.1:n.377A=
ENST00000574583.5:c.532-620A=	ENSP00000460269.1:n.532-620A=
ENST00000576315.5:c.532-226A=	ENSP00000460551.1:n.532-226A=
ENST00000621655.1:c.1054A=	ENSP00000481436.1:p.Lys352=
NM_000243.2:c.1687A= , LRG_190t1:c.1687A=	NP_000234.1:p.Lys563=
NM_001198536.1:c.1054A=	NP_001185465.1:p.Lys352=
XM_017023236.2:c.1684A=	XP_016878725.1:p.Lys562=
XR_001751903.1:n.1876A=
NM_000243.3:c.1687A= MANE Select	NP_000234.1:p.Lys563=
NM_001198536.2:c.1054A=	NP_001185465.2:p.Lys352=