Canonical Allele Identifier: CA2202658561

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243257C= , CM000678.2:g.3243257C=	GRCh38
NC_000016.9:g.3293257C= , CM000678.1:g.3293257C=	GRCh37
NC_000016.8:g.3233258C=	NCBI36
NG_007871.1:g.18371G= , LRG_190:g.18371G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1351G=
ENST00000219596.6:c.2230G= MANE Select	ENSP00000219596.1:p.Ala744=
ENST00000219596.5:c.2230G=	ENSP00000219596.1:p.Ala744=
ENST00000339854.8:c.1690G=	ENSP00000339639.4:p.Ala564=
ENST00000536379.5:c.1597G=	ENSP00000445079.1:p.Ala533=
ENST00000536980.5:c.*506G=	ENSP00000444178.1:n.*506G=
ENST00000537682.5:c.*506G=	ENSP00000438611.1:n.*506G=
ENST00000538326.5:c.*855G=	ENSP00000437486.1:n.*855G=
ENST00000539145.5:c.1151G=	ENSP00000444471.1:n.1151G=
ENST00000541159.5:c.1772G=	ENSP00000438711.1:n.1772G=
ENST00000542898.5:c.*506G=	ENSP00000444615.1:n.*506G=
ENST00000570511.5:c.1635G=	ENSP00000458312.1:n.1635G=
ENST00000572244.5:c.920G=	ENSP00000461186.1:n.920G=
ENST00000574583.5:c.1002G=	ENSP00000460269.1:n.1002G=
ENST00000576315.5:c.1035G=	ENSP00000460551.1:n.1035G=
ENST00000621655.1:c.1767G=	ENSP00000481436.1:n.1767G=
NM_000243.2:c.2230G= , LRG_190t1:c.2230G=	NP_000234.1:p.Ala744=
NM_001198536.1:c.*434G=	NP_001185465.1:n.*434G=
XM_017023236.2:c.2227G=	XP_016878725.1:p.Ala743=
NM_000243.3:c.2230G= MANE Select	NP_000234.1:p.Ala744=
NM_001198536.2:c.*434G=	NP_001185465.2:n.*434G=