Canonical Allele Identifier: CA2202658597

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243327G= , CM000678.2:g.3243327G=	GRCh38
NC_000016.9:g.3293327G= , CM000678.1:g.3293327G=	GRCh37
NC_000016.8:g.3233328G=	NCBI36
NG_007871.1:g.18301C= , LRG_190:g.18301C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1281C=
ENST00000219596.6:c.2160C= MANE Select	ENSP00000219596.1:p.Ile720=
ENST00000219596.5:c.2160C=	ENSP00000219596.1:p.Ile720=
ENST00000339854.8:c.1620C=	ENSP00000339639.4:p.Ile540=
ENST00000536379.5:c.1527C=	ENSP00000445079.1:p.Ile509=
ENST00000536980.5:c.*436C=	ENSP00000444178.1:n.*436C=
ENST00000537682.5:c.*436C=	ENSP00000438611.1:n.*436C=
ENST00000538326.5:c.*785C=	ENSP00000437486.1:n.*785C=
ENST00000539145.5:c.1081C=	ENSP00000444471.1:n.1081C=
ENST00000541159.5:c.1702C=	ENSP00000438711.1:n.1702C=
ENST00000542898.5:c.*436C=	ENSP00000444615.1:n.*436C=
ENST00000570511.5:c.1565C=	ENSP00000458312.1:n.1565C=
ENST00000572244.5:c.850C=	ENSP00000461186.1:n.850C=
ENST00000574583.5:c.932C=	ENSP00000460269.1:n.932C=
ENST00000576315.5:c.965C=	ENSP00000460551.1:n.965C=
ENST00000621655.1:c.1697C=	ENSP00000481436.1:n.1697C=
NM_000243.2:c.2160C= , LRG_190t1:c.2160C=	NP_000234.1:p.Ile720=
NM_001198536.1:c.*364C=	NP_001185465.1:n.*364C=
XM_017023236.2:c.2157C=	XP_016878725.1:p.Ile719=
NM_000243.3:c.2160C= MANE Select	NP_000234.1:p.Ile720=
NM_001198536.2:c.*364C=	NP_001185465.2:n.*364C=