Canonical Allele Identifier: CA2202658731

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243583C= , CM000678.2:g.3243583C=	GRCh38
NC_000016.9:g.3293583C= , CM000678.1:g.3293583C=	GRCh37
NC_000016.8:g.3233584C=	NCBI36
NG_007871.1:g.18045G= , LRG_190:g.18045G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1025G=
ENST00000219596.6:c.1904G= MANE Select	ENSP00000219596.1:p.Arg635=
ENST00000219596.5:c.1904G=	ENSP00000219596.1:p.Arg635=
ENST00000339854.8:c.1364G=	ENSP00000339639.4:p.Arg455=
ENST00000536379.5:c.1271G=	ENSP00000445079.1:p.Arg424=
ENST00000536980.5:c.*180G=	ENSP00000444178.1:n.*180G=
ENST00000537682.5:c.*180G=	ENSP00000438611.1:n.*180G=
ENST00000538326.5:c.*529G=	ENSP00000437486.1:n.*529G=
ENST00000539145.5:c.825G=	ENSP00000444471.1:n.825G=
ENST00000541159.5:c.1446G=	ENSP00000438711.1:n.1446G=
ENST00000542898.5:c.*180G=	ENSP00000444615.1:n.*180G=
ENST00000570511.5:c.1309G=	ENSP00000458312.1:n.1309G=
ENST00000572244.5:c.594G=	ENSP00000461186.1:n.594G=
ENST00000574583.5:c.676G=	ENSP00000460269.1:n.676G=
ENST00000576315.5:c.709G=	ENSP00000460551.1:n.709G=
ENST00000621655.1:c.1441G=	ENSP00000481436.1:n.1441G=
NM_000243.2:c.1904G= , LRG_190t1:c.1904G=	NP_000234.1:p.Arg635=
NM_001198536.1:c.*108G=	NP_001185465.1:n.*108G=
XM_017023236.2:c.1901G=	XP_016878725.1:p.Arg634=
NM_000243.3:c.1904G= MANE Select	NP_000234.1:p.Arg635=
NM_001198536.2:c.*108G=	NP_001185465.2:n.*108G=