Canonical Allele Identifier: CA2202658605

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243338G= , CM000678.2:g.3243338G=	GRCh38
NC_000016.9:g.3293338G= , CM000678.1:g.3293338G=	GRCh37
NC_000016.8:g.3233339G=	NCBI36
NG_007871.1:g.18290C= , LRG_190:g.18290C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1270C=
ENST00000219596.6:c.2149C= MANE Select	ENSP00000219596.1:p.Arg717=
ENST00000219596.5:c.2149C=	ENSP00000219596.1:p.Arg717=
ENST00000339854.8:c.1609C=	ENSP00000339639.4:p.Arg537=
ENST00000536379.5:c.1516C=	ENSP00000445079.1:p.Arg506=
ENST00000536980.5:c.*425C=	ENSP00000444178.1:n.*425C=
ENST00000537682.5:c.*425C=	ENSP00000438611.1:n.*425C=
ENST00000538326.5:c.*774C=	ENSP00000437486.1:n.*774C=
ENST00000539145.5:c.1070C=	ENSP00000444471.1:n.1070C=
ENST00000541159.5:c.1691C=	ENSP00000438711.1:n.1691C=
ENST00000542898.5:c.*425C=	ENSP00000444615.1:n.*425C=
ENST00000570511.5:c.1554C=	ENSP00000458312.1:n.1554C=
ENST00000572244.5:c.839C=	ENSP00000461186.1:n.839C=
ENST00000574583.5:c.921C=	ENSP00000460269.1:n.921C=
ENST00000576315.5:c.954C=	ENSP00000460551.1:n.954C=
ENST00000621655.1:c.1686C=	ENSP00000481436.1:n.1686C=
NM_000243.2:c.2149C= , LRG_190t1:c.2149C=	NP_000234.1:p.Arg717=
NM_001198536.1:c.*353C=	NP_001185465.1:n.*353C=
XM_017023236.2:c.2146C=	XP_016878725.1:p.Arg716=
NM_000243.3:c.2149C= MANE Select	NP_000234.1:p.Arg717=
NM_001198536.2:c.*353C=	NP_001185465.2:n.*353C=