Canonical Allele Identifier: CA2202658595

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243324G= , CM000678.2:g.3243324G=	GRCh38
NC_000016.9:g.3293324G= , CM000678.1:g.3293324G=	GRCh37
NC_000016.8:g.3233325G=	NCBI36
NG_007871.1:g.18304C= , LRG_190:g.18304C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000697124.1:n.1284C=
ENST00000219596.6:c.2163C= MANE Select	ENSP00000219596.1:p.Phe721=
ENST00000219596.5:c.2163C=	ENSP00000219596.1:p.Phe721=
ENST00000339854.8:c.1623C=	ENSP00000339639.4:p.Phe541=
ENST00000536379.5:c.1530C=	ENSP00000445079.1:p.Phe510=
ENST00000536980.5:c.*439C=	ENSP00000444178.1:n.*439C=
ENST00000537682.5:c.*439C=	ENSP00000438611.1:n.*439C=
ENST00000538326.5:c.*788C=	ENSP00000437486.1:n.*788C=
ENST00000539145.5:c.1084C=	ENSP00000444471.1:n.1084C=
ENST00000541159.5:c.1705C=	ENSP00000438711.1:n.1705C=
ENST00000542898.5:c.*439C=	ENSP00000444615.1:n.*439C=
ENST00000570511.5:c.1568C=	ENSP00000458312.1:n.1568C=
ENST00000572244.5:c.853C=	ENSP00000461186.1:n.853C=
ENST00000574583.5:c.935C=	ENSP00000460269.1:n.935C=
ENST00000576315.5:c.968C=	ENSP00000460551.1:n.968C=
ENST00000621655.1:c.1700C=	ENSP00000481436.1:n.1700C=
NM_000243.2:c.2163C= , LRG_190t1:c.2163C=	NP_000234.1:p.Phe721=
NM_001198536.1:c.*367C=	NP_001185465.1:n.*367C=
XM_017023236.2:c.2160C=	XP_016878725.1:p.Phe720=
NM_000243.3:c.2163C= MANE Select	NP_000234.1:p.Phe721=
NM_001198536.2:c.*367C=	NP_001185465.2:n.*367C=