Canonical Allele Identifier: CA2202658638

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243389G= , CM000678.2:g.3243389G=	GRCh38
NC_000016.9:g.3293389G= , CM000678.1:g.3293389G=	GRCh37
NC_000016.8:g.3233390G=	NCBI36
NG_007871.1:g.18239C= , LRG_190:g.18239C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1219C=
ENST00000219596.6:c.2098C= MANE Select	ENSP00000219596.1:p.Gln700=
ENST00000219596.5:c.2098C=	ENSP00000219596.1:p.Gln700=
ENST00000339854.8:c.1558C=	ENSP00000339639.4:p.Gln520=
ENST00000536379.5:c.1465C=	ENSP00000445079.1:p.Gln489=
ENST00000536980.5:c.*374C=	ENSP00000444178.1:n.*374C=
ENST00000537682.5:c.*374C=	ENSP00000438611.1:n.*374C=
ENST00000538326.5:c.*723C=	ENSP00000437486.1:n.*723C=
ENST00000539145.5:c.1019C=	ENSP00000444471.1:n.1019C=
ENST00000541159.5:c.1640C=	ENSP00000438711.1:n.1640C=
ENST00000542898.5:c.*374C=	ENSP00000444615.1:n.*374C=
ENST00000570511.5:c.1503C=	ENSP00000458312.1:n.1503C=
ENST00000572244.5:c.788C=	ENSP00000461186.1:n.788C=
ENST00000574583.5:c.870C=	ENSP00000460269.1:n.870C=
ENST00000576315.5:c.903C=	ENSP00000460551.1:n.903C=
ENST00000621655.1:c.1635C=	ENSP00000481436.1:n.1635C=
NM_000243.2:c.2098C= , LRG_190t1:c.2098C=	NP_000234.1:p.Gln700=
NM_001198536.1:c.*302C=	NP_001185465.1:n.*302C=
XM_017023236.2:c.2095C=	XP_016878725.1:p.Gln699=
NM_000243.3:c.2098C= MANE Select	NP_000234.1:p.Gln700=
NM_001198536.2:c.*302C=	NP_001185465.2:n.*302C=