Canonical Allele Identifier: CA2202662031

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3249690A= , CM000678.2:g.3249690A=	GRCh38
NC_000016.9:g.3299690A= , CM000678.1:g.3299690A=	GRCh37
NC_000016.8:g.3239691A=	NCBI36
NG_007871.1:g.11938T= , LRG_190:g.11938T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219596.6:c.1001T= MANE Select	ENSP00000219596.1:p.Phe334=
ENST00000219596.5:c.1001T=	ENSP00000219596.1:p.Phe334=
ENST00000339854.8:c.461T=	ENSP00000339639.4:p.Phe154=
ENST00000536379.5:c.368T=	ENSP00000445079.1:p.Phe123=
ENST00000536980.5:c.368T=	ENSP00000444178.1:p.Phe123=
ENST00000537682.5:c.1001T=	ENSP00000438611.1:p.Phe334=
ENST00000538326.5:c.1001T=	ENSP00000437486.1:p.Phe334=
ENST00000539145.5:c.278-2444T=	ENSP00000444471.1:n.278-2444T=
ENST00000541159.5:c.368T=	ENSP00000438711.1:p.Phe123=
ENST00000542898.5:c.1094T=	ENSP00000444615.1:p.Phe365=
ENST00000570511.5:c.911-2444T=	ENSP00000458312.1:n.911-2444T=
ENST00000572244.5:c.278-3143T=	ENSP00000461186.1:n.278-3143T=
ENST00000574583.5:c.278-2444T=	ENSP00000460269.1:n.278-2444T=
ENST00000576315.5:c.278-2444T=	ENSP00000460551.1:n.278-2444T=
ENST00000621655.1:c.368T=	ENSP00000481436.1:p.Phe123=
NM_000243.2:c.1001T= , LRG_190t1:c.1001T=	NP_000234.1:p.Phe334=
NM_001198536.1:c.368T=	NP_001185465.1:p.Phe123=
XM_017023236.2:c.1001T=	XP_016878725.1:p.Phe334=
XR_001751903.1:n.1190T=
NM_000243.3:c.1001T= MANE Select	NP_000234.1:p.Phe334=
NM_001198536.2:c.368T=	NP_001185465.2:p.Phe123=