Canonical Allele Identifier: CA2202660597

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3247090C= , CM000678.2:g.3247090C=	GRCh38
NC_000016.9:g.3297090C= , CM000678.1:g.3297090C=	GRCh37
NC_000016.8:g.3237091C=	NCBI36
NG_007871.1:g.14538G= , LRG_190:g.14538G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219596.6:c.1513G= MANE Select	ENSP00000219596.1:p.Asp505=
ENST00000219596.5:c.1513G=	ENSP00000219596.1:p.Asp505=
ENST00000339854.8:c.973G=	ENSP00000339639.4:p.Asp325=
ENST00000536379.5:c.880G=	ENSP00000445079.1:p.Asp294=
ENST00000536980.5:c.880G=	ENSP00000444178.1:p.Asp294=
ENST00000537682.5:c.1513G=	ENSP00000438611.1:p.Asp505=
ENST00000538326.5:c.*138G=	ENSP00000437486.1:n.*138G=
ENST00000539145.5:c.434G=	ENSP00000444471.1:n.434G=
ENST00000539154.1:n.878G=
ENST00000541159.5:c.880G=	ENSP00000438711.1:p.Asp294=
ENST00000542898.5:c.1606G=	ENSP00000444615.1:p.Asp536=
ENST00000570511.5:c.1067G=	ENSP00000458312.1:n.1067G=
ENST00000572244.5:c.278-543G=	ENSP00000461186.1:n.278-543G=
ENST00000574583.5:c.434G=	ENSP00000460269.1:n.434G=
ENST00000576315.5:c.434G=	ENSP00000460551.1:n.434G=
ENST00000621655.1:c.880G=	ENSP00000481436.1:p.Asp294=
NM_000243.2:c.1513G= , LRG_190t1:c.1513G=	NP_000234.1:p.Asp505=
NM_001198536.1:c.880G=	NP_001185465.1:p.Asp294=
XM_017023236.2:c.1510G=	XP_016878725.1:p.Asp504=
XR_001751903.1:n.1702G=
NM_000243.3:c.1513G= MANE Select	NP_000234.1:p.Asp505=
NM_001198536.2:c.880G=	NP_001185465.2:p.Asp294=