Canonical Allele Identifier: CA2202658553

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243240A= , CM000678.2:g.3243240A=	GRCh38
NC_000016.9:g.3293240A= , CM000678.1:g.3293240A=	GRCh37
NC_000016.8:g.3233241A=	NCBI36
NG_007871.1:g.18388T= , LRG_190:g.18388T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1368T=
ENST00000219596.6:c.2247T= MANE Select	ENSP00000219596.1:p.Ser749=
ENST00000219596.5:c.2247T=	ENSP00000219596.1:p.Ser749=
ENST00000339854.8:c.1707T=	ENSP00000339639.4:p.Ser569=
ENST00000536379.5:c.1614T=	ENSP00000445079.1:p.Ser538=
ENST00000536980.5:c.*523T=	ENSP00000444178.1:n.*523T=
ENST00000537682.5:c.*523T=	ENSP00000438611.1:n.*523T=
ENST00000538326.5:c.*872T=	ENSP00000437486.1:n.*872T=
ENST00000539145.5:c.1168T=	ENSP00000444471.1:n.1168T=
ENST00000541159.5:c.1789T=	ENSP00000438711.1:n.1789T=
ENST00000542898.5:c.*523T=	ENSP00000444615.1:n.*523T=
ENST00000570511.5:c.1652T=	ENSP00000458312.1:n.1652T=
ENST00000572244.5:c.937T=	ENSP00000461186.1:n.937T=
ENST00000574583.5:c.1019T=	ENSP00000460269.1:n.1019T=
ENST00000576315.5:c.1052T=	ENSP00000460551.1:n.1052T=
ENST00000621655.1:c.1784T=	ENSP00000481436.1:n.1784T=
NM_000243.2:c.2247T= , LRG_190t1:c.2247T=	NP_000234.1:p.Ser749=
NM_001198536.1:c.*451T=	NP_001185465.1:n.*451T=
XM_017023236.2:c.2244T=	XP_016878725.1:p.Ser748=
NM_000243.3:c.2247T= MANE Select	NP_000234.1:p.Ser749=
NM_001198536.2:c.*451T=	NP_001185465.2:n.*451T=