Canonical Allele Identifier: CA2202658520

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243170A= , CM000678.2:g.3243170A=	GRCh38
NC_000016.9:g.3293170A= , CM000678.1:g.3293170A=	GRCh37
NC_000016.8:g.3233171A=	NCBI36
NG_007871.1:g.18458T= , LRG_190:g.18458T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1438T=
ENST00000219596.6:c.2317T= MANE Select	ENSP00000219596.1:p.Cys773=
ENST00000219596.5:c.2317T=	ENSP00000219596.1:p.Cys773=
ENST00000339854.8:c.1777T=	ENSP00000339639.4:p.Cys593=
ENST00000536379.5:c.1684T=	ENSP00000445079.1:p.Cys562=
ENST00000536980.5:c.*593T=	ENSP00000444178.1:n.*593T=
ENST00000537682.5:c.*593T=	ENSP00000438611.1:n.*593T=
ENST00000538326.5:c.*942T=	ENSP00000437486.1:n.*942T=
ENST00000539145.5:c.1238T=	ENSP00000444471.1:n.1238T=
ENST00000541159.5:c.1859T=	ENSP00000438711.1:n.1859T=
ENST00000542898.5:c.*593T=	ENSP00000444615.1:n.*593T=
ENST00000570511.5:c.1722T=	ENSP00000458312.1:n.1722T=
ENST00000572244.5:c.1007T=	ENSP00000461186.1:n.1007T=
ENST00000574583.5:c.1089T=	ENSP00000460269.1:n.1089T=
ENST00000576315.5:c.1122T=	ENSP00000460551.1:n.1122T=
ENST00000621655.1:c.1854T=	ENSP00000481436.1:n.1854T=
NM_000243.2:c.2317T= , LRG_190t1:c.2317T=	NP_000234.1:p.Cys773=
NM_001198536.1:c.*521T=	NP_001185465.1:n.*521T=
XM_017023236.2:c.2314T=	XP_016878725.1:p.Cys772=
NM_000243.3:c.2317T= MANE Select	NP_000234.1:p.Cys773=
NM_001198536.2:c.*521T=	NP_001185465.2:n.*521T=