Canonical Allele Identifier: CA2202658642

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243402C= , CM000678.2:g.3243402C=	GRCh38
NC_000016.9:g.3293402C= , CM000678.1:g.3293402C=	GRCh37
NC_000016.8:g.3233403C=	NCBI36
NG_007871.1:g.18226G= , LRG_190:g.18226G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1206G=
ENST00000219596.6:c.2085G= MANE Select	ENSP00000219596.1:p.Lys695=
ENST00000219596.5:c.2085G=	ENSP00000219596.1:p.Lys695=
ENST00000339854.8:c.1545G=	ENSP00000339639.4:p.Lys515=
ENST00000536379.5:c.1452G=	ENSP00000445079.1:p.Lys484=
ENST00000536980.5:c.*361G=	ENSP00000444178.1:n.*361G=
ENST00000537682.5:c.*361G=	ENSP00000438611.1:n.*361G=
ENST00000538326.5:c.*710G=	ENSP00000437486.1:n.*710G=
ENST00000539145.5:c.1006G=	ENSP00000444471.1:n.1006G=
ENST00000541159.5:c.1627G=	ENSP00000438711.1:n.1627G=
ENST00000542898.5:c.*361G=	ENSP00000444615.1:n.*361G=
ENST00000570511.5:c.1490G=	ENSP00000458312.1:n.1490G=
ENST00000572244.5:c.775G=	ENSP00000461186.1:n.775G=
ENST00000574583.5:c.857G=	ENSP00000460269.1:n.857G=
ENST00000576315.5:c.890G=	ENSP00000460551.1:n.890G=
ENST00000621655.1:c.1622G=	ENSP00000481436.1:n.1622G=
NM_000243.2:c.2085G= , LRG_190t1:c.2085G=	NP_000234.1:p.Lys695=
NM_001198536.1:c.*289G=	NP_001185465.1:n.*289G=
XM_017023236.2:c.2082G=	XP_016878725.1:p.Lys694=
NM_000243.3:c.2085G= MANE Select	NP_000234.1:p.Lys695=
NM_001198536.2:c.*289G=	NP_001185465.2:n.*289G=