Canonical Allele Identifier: CA2202658619

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243363G= , CM000678.2:g.3243363G=	GRCh38
NC_000016.9:g.3293363G= , CM000678.1:g.3293363G=	GRCh37
NC_000016.8:g.3233364G=	NCBI36
NG_007871.1:g.18265C= , LRG_190:g.18265C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1245C=
ENST00000219596.6:c.2124C= MANE Select	ENSP00000219596.1:p.Arg708=
ENST00000219596.5:c.2124C=	ENSP00000219596.1:p.Arg708=
ENST00000339854.8:c.1584C=	ENSP00000339639.4:p.Arg528=
ENST00000536379.5:c.1491C=	ENSP00000445079.1:p.Arg497=
ENST00000536980.5:c.*400C=	ENSP00000444178.1:n.*400C=
ENST00000537682.5:c.*400C=	ENSP00000438611.1:n.*400C=
ENST00000538326.5:c.*749C=	ENSP00000437486.1:n.*749C=
ENST00000539145.5:c.1045C=	ENSP00000444471.1:n.1045C=
ENST00000541159.5:c.1666C=	ENSP00000438711.1:n.1666C=
ENST00000542898.5:c.*400C=	ENSP00000444615.1:n.*400C=
ENST00000570511.5:c.1529C=	ENSP00000458312.1:n.1529C=
ENST00000572244.5:c.814C=	ENSP00000461186.1:n.814C=
ENST00000574583.5:c.896C=	ENSP00000460269.1:n.896C=
ENST00000576315.5:c.929C=	ENSP00000460551.1:n.929C=
ENST00000621655.1:c.1661C=	ENSP00000481436.1:n.1661C=
NM_000243.2:c.2124C= , LRG_190t1:c.2124C=	NP_000234.1:p.Arg708=
NM_001198536.1:c.*328C=	NP_001185465.1:n.*328C=
XM_017023236.2:c.2121C=	XP_016878725.1:p.Arg707=
NM_000243.3:c.2124C= MANE Select	NP_000234.1:p.Arg708=
NM_001198536.2:c.*328C=	NP_001185465.2:n.*328C=