Canonical Allele Identifier: CA2202659233

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3244513C= , CM000678.2:g.3244513C=	GRCh38
NC_000016.9:g.3294513C= , CM000678.1:g.3294513C=	GRCh37
NC_000016.8:g.3234514C=	NCBI36
NG_007871.1:g.17115G= , LRG_190:g.17115G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.807G=
ENST00000219596.6:c.1686G= MANE Select	ENSP00000219596.1:p.Gln562=
ENST00000219596.5:c.1686G=	ENSP00000219596.1:p.Gln562=
ENST00000339854.8:c.1146G=	ENSP00000339639.4:p.Gln382=
ENST00000536379.5:c.1053G=	ENSP00000445079.1:p.Gln351=
ENST00000536980.5:c.1053G=	ENSP00000444178.1:p.Gln351=
ENST00000537682.5:c.1686G=	ENSP00000438611.1:p.Gln562=
ENST00000538326.5:c.*311G=	ENSP00000437486.1:n.*311G=
ENST00000539145.5:c.607G=	ENSP00000444471.1:n.607G=
ENST00000541159.5:c.1053G=	ENSP00000438711.1:p.Gln351=
ENST00000542898.5:c.1779G=	ENSP00000444615.1:p.Gln593=
ENST00000570511.5:c.1165-621G=	ENSP00000458312.1:n.1165-621G=
ENST00000572244.5:c.376G=	ENSP00000461186.1:n.376G=
ENST00000574583.5:c.532-621G=	ENSP00000460269.1:n.532-621G=
ENST00000576315.5:c.532-227G=	ENSP00000460551.1:n.532-227G=
ENST00000621655.1:c.1053G=	ENSP00000481436.1:p.Gln351=
NM_000243.2:c.1686G= , LRG_190t1:c.1686G=	NP_000234.1:p.Gln562=
NM_001198536.1:c.1053G=	NP_001185465.1:p.Gln351=
XM_017023236.2:c.1683G=	XP_016878725.1:p.Gln561=
XR_001751903.1:n.1875G=
NM_000243.3:c.1686G= MANE Select	NP_000234.1:p.Gln562=
NM_001198536.2:c.1053G=	NP_001185465.2:p.Gln351=