Canonical Allele Identifier: CA2202658636

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243386C= , CM000678.2:g.3243386C=	GRCh38
NC_000016.9:g.3293386C= , CM000678.1:g.3293386C=	GRCh37
NC_000016.8:g.3233387C=	NCBI36
NG_007871.1:g.18242G= , LRG_190:g.18242G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1222G=
ENST00000219596.6:c.2101G= MANE Select	ENSP00000219596.1:p.Ala701=
ENST00000219596.5:c.2101G=	ENSP00000219596.1:p.Ala701=
ENST00000339854.8:c.1561G=	ENSP00000339639.4:p.Ala521=
ENST00000536379.5:c.1468G=	ENSP00000445079.1:p.Ala490=
ENST00000536980.5:c.*377G=	ENSP00000444178.1:n.*377G=
ENST00000537682.5:c.*377G=	ENSP00000438611.1:n.*377G=
ENST00000538326.5:c.*726G=	ENSP00000437486.1:n.*726G=
ENST00000539145.5:c.1022G=	ENSP00000444471.1:n.1022G=
ENST00000541159.5:c.1643G=	ENSP00000438711.1:n.1643G=
ENST00000542898.5:c.*377G=	ENSP00000444615.1:n.*377G=
ENST00000570511.5:c.1506G=	ENSP00000458312.1:n.1506G=
ENST00000572244.5:c.791G=	ENSP00000461186.1:n.791G=
ENST00000574583.5:c.873G=	ENSP00000460269.1:n.873G=
ENST00000576315.5:c.906G=	ENSP00000460551.1:n.906G=
ENST00000621655.1:c.1638G=	ENSP00000481436.1:n.1638G=
NM_000243.2:c.2101G= , LRG_190t1:c.2101G=	NP_000234.1:p.Ala701=
NM_001198536.1:c.*305G=	NP_001185465.1:n.*305G=
XM_017023236.2:c.2098G=	XP_016878725.1:p.Ala700=
NM_000243.3:c.2101G= MANE Select	NP_000234.1:p.Ala701=
NM_001198536.2:c.*305G=	NP_001185465.2:n.*305G=