Canonical Allele Identifier: CA2202658511

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243155G= , CM000678.2:g.3243155G=	GRCh38
NC_000016.9:g.3293155G= , CM000678.1:g.3293155G=	GRCh37
NC_000016.8:g.3233156G=	NCBI36
NG_007871.1:g.18473C= , LRG_190:g.18473C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1453C=
ENST00000219596.6:c.2332C= MANE Select	ENSP00000219596.1:p.Gln778=
ENST00000219596.5:c.2332C=	ENSP00000219596.1:p.Gln778=
ENST00000339854.8:c.1792C=	ENSP00000339639.4:p.Gln598=
ENST00000536379.5:c.1699C=	ENSP00000445079.1:p.Gln567=
ENST00000536980.5:c.*608C=	ENSP00000444178.1:n.*608C=
ENST00000537682.5:c.*608C=	ENSP00000438611.1:n.*608C=
ENST00000538326.5:c.*957C=	ENSP00000437486.1:n.*957C=
ENST00000539145.5:c.1253C=	ENSP00000444471.1:n.1253C=
ENST00000541159.5:c.1874C=	ENSP00000438711.1:n.1874C=
ENST00000542898.5:c.*608C=	ENSP00000444615.1:n.*608C=
ENST00000570511.5:c.1737C=	ENSP00000458312.1:n.1737C=
ENST00000572244.5:c.1022C=	ENSP00000461186.1:n.1022C=
ENST00000574583.5:c.1104C=	ENSP00000460269.1:n.1104C=
ENST00000576315.5:c.1137C=	ENSP00000460551.1:n.1137C=
ENST00000621655.1:c.1869C=	ENSP00000481436.1:n.1869C=
NM_000243.2:c.2332C= , LRG_190t1:c.2332C=	NP_000234.1:p.Gln778=
NM_001198536.1:c.*536C=	NP_001185465.1:n.*536C=
XM_017023236.2:c.2329C=	XP_016878725.1:p.Gln777=
NM_000243.3:c.2332C= MANE Select	NP_000234.1:p.Gln778=
NM_001198536.2:c.*536C=	NP_001185465.2:n.*536C=