Canonical Allele Identifier: CA2202661924

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3249480T= , CM000678.2:g.3249480T=	GRCh38
NC_000016.9:g.3299480T= , CM000678.1:g.3299480T=	GRCh37
NC_000016.8:g.3239481T=	NCBI36
NG_007871.1:g.12148A= , LRG_190:g.12148A=

Transcript Alleles

HGVS	Amino-acid Change
NM_000243.3:c.1211A= MANE Select	NP_000234.1:p.His404=
ENST00000219596.6:c.1211A= MANE Select	ENSP00000219596.1:p.His404=
NM_000243.2:c.1211A= , LRG_190t1:c.1211A=	NP_000234.1:p.His404=
NM_001198536.1:c.578A=	NP_001185465.1:p.His193=
NM_001198536.2:c.578A=	NP_001185465.2:p.His193=
ENST00000219596.5:c.1211A=	ENSP00000219596.1:p.His404=
ENST00000339854.8:c.671A=	ENSP00000339639.4:p.His224=
ENST00000536379.5:c.578A=	ENSP00000445079.1:p.His193=
ENST00000536980.5:c.578A=	ENSP00000444178.1:p.His193=
ENST00000537682.5:c.1211A=	ENSP00000438611.1:p.His404=
ENST00000538326.5:c.1211A=	ENSP00000437486.1:p.His404=
ENST00000539145.5:c.278-2234A=	ENSP00000444471.1:n.278-2234A=
ENST00000541159.5:c.578A=	ENSP00000438711.1:p.His193=
ENST00000542898.5:c.1304A=	ENSP00000444615.1:p.His435=
ENST00000570511.5:c.911-2234A=	ENSP00000458312.1:n.911-2234A=
ENST00000572244.5:c.278-2933A=	ENSP00000461186.1:n.278-2933A=
ENST00000574583.5:c.278-2234A=	ENSP00000460269.1:n.278-2234A=
ENST00000576315.5:c.278-2234A=	ENSP00000460551.1:n.278-2234A=
ENST00000621655.1:c.578A=	ENSP00000481436.1:p.His193=
XM_017023236.2:c.1211A=	XP_016878725.1:p.His404=
XR_001751903.1:n.1400A=