Canonical Allele Identifier: CA2202658656

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243418A= , CM000678.2:g.3243418A=	GRCh38
NC_000016.9:g.3293418A= , CM000678.1:g.3293418A=	GRCh37
NC_000016.8:g.3233419A=	NCBI36
NG_007871.1:g.18210T= , LRG_190:g.18210T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1190T=
ENST00000219596.6:c.2069T= MANE Select	ENSP00000219596.1:p.Val690=
ENST00000219596.5:c.2069T=	ENSP00000219596.1:p.Val690=
ENST00000339854.8:c.1529T=	ENSP00000339639.4:p.Val510=
ENST00000536379.5:c.1436T=	ENSP00000445079.1:p.Val479=
ENST00000536980.5:c.*345T=	ENSP00000444178.1:n.*345T=
ENST00000537682.5:c.*345T=	ENSP00000438611.1:n.*345T=
ENST00000538326.5:c.*694T=	ENSP00000437486.1:n.*694T=
ENST00000539145.5:c.990T=	ENSP00000444471.1:n.990T=
ENST00000541159.5:c.1611T=	ENSP00000438711.1:n.1611T=
ENST00000542898.5:c.*345T=	ENSP00000444615.1:n.*345T=
ENST00000570511.5:c.1474T=	ENSP00000458312.1:n.1474T=
ENST00000572244.5:c.759T=	ENSP00000461186.1:n.759T=
ENST00000574583.5:c.841T=	ENSP00000460269.1:n.841T=
ENST00000576315.5:c.874T=	ENSP00000460551.1:n.874T=
ENST00000621655.1:c.1606T=	ENSP00000481436.1:n.1606T=
NM_000243.2:c.2069T= , LRG_190t1:c.2069T=	NP_000234.1:p.Val690=
NM_001198536.1:c.*273T=	NP_001185465.1:n.*273T=
XM_017023236.2:c.2066T=	XP_016878725.1:p.Val689=
NM_000243.3:c.2069T= MANE Select	NP_000234.1:p.Val690=
NM_001198536.2:c.*273T=	NP_001185465.2:n.*273T=