Canonical Allele Identifier: CA2202658580

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243285C= , CM000678.2:g.3243285C=	GRCh38
NC_000016.9:g.3293285C= , CM000678.1:g.3293285C=	GRCh37
NC_000016.8:g.3233286C=	NCBI36
NG_007871.1:g.18343G= , LRG_190:g.18343G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1323G=
ENST00000219596.6:c.2202G= MANE Select	ENSP00000219596.1:p.Val734=
ENST00000219596.5:c.2202G=	ENSP00000219596.1:p.Val734=
ENST00000339854.8:c.1662G=	ENSP00000339639.4:p.Val554=
ENST00000536379.5:c.1569G=	ENSP00000445079.1:p.Val523=
ENST00000536980.5:c.*478G=	ENSP00000444178.1:n.*478G=
ENST00000537682.5:c.*478G=	ENSP00000438611.1:n.*478G=
ENST00000538326.5:c.*827G=	ENSP00000437486.1:n.*827G=
ENST00000539145.5:c.1123G=	ENSP00000444471.1:n.1123G=
ENST00000541159.5:c.1744G=	ENSP00000438711.1:n.1744G=
ENST00000542898.5:c.*478G=	ENSP00000444615.1:n.*478G=
ENST00000570511.5:c.1607G=	ENSP00000458312.1:n.1607G=
ENST00000572244.5:c.892G=	ENSP00000461186.1:n.892G=
ENST00000574583.5:c.974G=	ENSP00000460269.1:n.974G=
ENST00000576315.5:c.1007G=	ENSP00000460551.1:n.1007G=
ENST00000621655.1:c.1739G=	ENSP00000481436.1:n.1739G=
NM_000243.2:c.2202G= , LRG_190t1:c.2202G=	NP_000234.1:p.Val734=
NM_001198536.1:c.*406G=	NP_001185465.1:n.*406G=
XM_017023236.2:c.2199G=	XP_016878725.1:p.Val733=
NM_000243.3:c.2202G= MANE Select	NP_000234.1:p.Val734=
NM_001198536.2:c.*406G=	NP_001185465.2:n.*406G=