Canonical Allele Identifier: CA2202660646

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3247177G= , CM000678.2:g.3247177G=	GRCh38
NC_000016.9:g.3297177G= , CM000678.1:g.3297177G=	GRCh37
NC_000016.8:g.3237178G=	NCBI36
NG_007871.1:g.14451C= , LRG_190:g.14451C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000219596.6:c.1426C= MANE Select	ENSP00000219596.1:p.Gln476=
ENST00000219596.5:c.1426C=	ENSP00000219596.1:p.Gln476=
ENST00000339854.8:c.886C=	ENSP00000339639.4:p.Gln296=
ENST00000536379.5:c.793C=	ENSP00000445079.1:p.Gln265=
ENST00000536980.5:c.793C=	ENSP00000444178.1:p.Gln265=
ENST00000537682.5:c.1426C=	ENSP00000438611.1:p.Gln476=
ENST00000538326.5:c.*51C=	ENSP00000437486.1:n.*51C=
ENST00000539145.5:c.347C=	ENSP00000444471.1:n.347C=
ENST00000539154.1:n.791C=
ENST00000541159.5:c.793C=	ENSP00000438711.1:p.Gln265=
ENST00000542898.5:c.1519C=	ENSP00000444615.1:p.Gln507=
ENST00000570511.5:c.980C=	ENSP00000458312.1:n.980C=
ENST00000572244.5:c.278-630C=	ENSP00000461186.1:n.278-630C=
ENST00000574583.5:c.347C=	ENSP00000460269.1:n.347C=
ENST00000576315.5:c.347C=	ENSP00000460551.1:n.347C=
ENST00000621655.1:c.793C=	ENSP00000481436.1:p.Gln265=
NM_000243.2:c.1426C= , LRG_190t1:c.1426C=	NP_000234.1:p.Gln476=
NM_001198536.1:c.793C=	NP_001185465.1:p.Gln265=
XM_017023236.2:c.1423C=	XP_016878725.1:p.Gln475=
XR_001751903.1:n.1615C=
NM_000243.3:c.1426C= MANE Select	NP_000234.1:p.Gln476=
NM_001198536.2:c.793C=	NP_001185465.2:p.Gln265=