Canonical Allele Identifier: CA2202658711

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243538G= , CM000678.2:g.3243538G=	GRCh38
NC_000016.9:g.3293538G= , CM000678.1:g.3293538G=	GRCh37
NC_000016.8:g.3233539G=	NCBI36
NG_007871.1:g.18090C= , LRG_190:g.18090C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1070C=
ENST00000219596.6:c.1949C= MANE Select	ENSP00000219596.1:p.Ser650=
ENST00000219596.5:c.1949C=	ENSP00000219596.1:p.Ser650=
ENST00000339854.8:c.1409C=	ENSP00000339639.4:p.Ser470=
ENST00000536379.5:c.1316C=	ENSP00000445079.1:p.Ser439=
ENST00000536980.5:c.*225C=	ENSP00000444178.1:n.*225C=
ENST00000537682.5:c.*225C=	ENSP00000438611.1:n.*225C=
ENST00000538326.5:c.*574C=	ENSP00000437486.1:n.*574C=
ENST00000539145.5:c.870C=	ENSP00000444471.1:n.870C=
ENST00000541159.5:c.1491C=	ENSP00000438711.1:n.1491C=
ENST00000542898.5:c.*225C=	ENSP00000444615.1:n.*225C=
ENST00000570511.5:c.1354C=	ENSP00000458312.1:n.1354C=
ENST00000572244.5:c.639C=	ENSP00000461186.1:n.639C=
ENST00000574583.5:c.721C=	ENSP00000460269.1:n.721C=
ENST00000576315.5:c.754C=	ENSP00000460551.1:n.754C=
ENST00000621655.1:c.1486C=	ENSP00000481436.1:n.1486C=
NM_000243.2:c.1949C= , LRG_190t1:c.1949C=	NP_000234.1:p.Ser650=
NM_001198536.1:c.*153C=	NP_001185465.1:n.*153C=
XM_017023236.2:c.1946C=	XP_016878725.1:p.Ser649=
NM_000243.3:c.1949C= MANE Select	NP_000234.1:p.Ser650=
NM_001198536.2:c.*153C=	NP_001185465.2:n.*153C=