Canonical Allele Identifier: CA2202658579

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243283G= , CM000678.2:g.3243283G=	GRCh38
NC_000016.9:g.3293283G= , CM000678.1:g.3293283G=	GRCh37
NC_000016.8:g.3233284G=	NCBI36
NG_007871.1:g.18345C= , LRG_190:g.18345C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1325C=
ENST00000219596.6:c.2204C= MANE Select	ENSP00000219596.1:p.Thr735=
ENST00000219596.5:c.2204C=	ENSP00000219596.1:p.Thr735=
ENST00000339854.8:c.1664C=	ENSP00000339639.4:p.Thr555=
ENST00000536379.5:c.1571C=	ENSP00000445079.1:p.Thr524=
ENST00000536980.5:c.*480C=	ENSP00000444178.1:n.*480C=
ENST00000537682.5:c.*480C=	ENSP00000438611.1:n.*480C=
ENST00000538326.5:c.*829C=	ENSP00000437486.1:n.*829C=
ENST00000539145.5:c.1125C=	ENSP00000444471.1:n.1125C=
ENST00000541159.5:c.1746C=	ENSP00000438711.1:n.1746C=
ENST00000542898.5:c.*480C=	ENSP00000444615.1:n.*480C=
ENST00000570511.5:c.1609C=	ENSP00000458312.1:n.1609C=
ENST00000572244.5:c.894C=	ENSP00000461186.1:n.894C=
ENST00000574583.5:c.976C=	ENSP00000460269.1:n.976C=
ENST00000576315.5:c.1009C=	ENSP00000460551.1:n.1009C=
ENST00000621655.1:c.1741C=	ENSP00000481436.1:n.1741C=
NM_000243.2:c.2204C= , LRG_190t1:c.2204C=	NP_000234.1:p.Thr735=
NM_001198536.1:c.*408C=	NP_001185465.1:n.*408C=
XM_017023236.2:c.2201C=	XP_016878725.1:p.Thr734=
NM_000243.3:c.2204C= MANE Select	NP_000234.1:p.Thr735=
NM_001198536.2:c.*408C=	NP_001185465.2:n.*408C=