Canonical Allele Identifier: CA2202659242

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3244534T= , CM000678.2:g.3244534T=	GRCh38
NC_000016.9:g.3294534T= , CM000678.1:g.3294534T=	GRCh37
NC_000016.8:g.3234535T=	NCBI36
NG_007871.1:g.17094A= , LRG_190:g.17094A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.786A=
ENST00000219596.6:c.1665A= MANE Select	ENSP00000219596.1:p.Gln555=
ENST00000219596.5:c.1665A=	ENSP00000219596.1:p.Gln555=
ENST00000339854.8:c.1125A=	ENSP00000339639.4:p.Gln375=
ENST00000536379.5:c.1032A=	ENSP00000445079.1:p.Gln344=
ENST00000536980.5:c.1032A=	ENSP00000444178.1:p.Gln344=
ENST00000537682.5:c.1665A=	ENSP00000438611.1:p.Gln555=
ENST00000538326.5:c.*290A=	ENSP00000437486.1:n.*290A=
ENST00000539145.5:c.586A=	ENSP00000444471.1:n.586A=
ENST00000541159.5:c.1032A=	ENSP00000438711.1:p.Gln344=
ENST00000542898.5:c.1758A=	ENSP00000444615.1:p.Gln586=
ENST00000570511.5:c.1165-642A=	ENSP00000458312.1:n.1165-642A=
ENST00000572244.5:c.355A=	ENSP00000461186.1:n.355A=
ENST00000574583.5:c.532-642A=	ENSP00000460269.1:n.532-642A=
ENST00000576315.5:c.532-248A=	ENSP00000460551.1:n.532-248A=
ENST00000621655.1:c.1032A=	ENSP00000481436.1:p.Gln344=
NM_000243.2:c.1665A= , LRG_190t1:c.1665A=	NP_000234.1:p.Gln555=
NM_001198536.1:c.1032A=	NP_001185465.1:p.Gln344=
XM_017023236.2:c.1662A=	XP_016878725.1:p.Gln554=
XR_001751903.1:n.1854A=
NM_000243.3:c.1665A= MANE Select	NP_000234.1:p.Gln555=
NM_001198536.2:c.1032A=	NP_001185465.2:p.Gln344=