Canonical Allele Identifier: CA2202658529

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243189G= , CM000678.2:g.3243189G=	GRCh38
NC_000016.9:g.3293189G= , CM000678.1:g.3293189G=	GRCh37
NC_000016.8:g.3233190G=	NCBI36
NG_007871.1:g.18439C= , LRG_190:g.18439C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1419C=
ENST00000219596.6:c.2298C= MANE Select	ENSP00000219596.1:p.Asn766=
ENST00000219596.5:c.2298C=	ENSP00000219596.1:p.Asn766=
ENST00000339854.8:c.1758C=	ENSP00000339639.4:p.Asn586=
ENST00000536379.5:c.1665C=	ENSP00000445079.1:p.Asn555=
ENST00000536980.5:c.*574C=	ENSP00000444178.1:n.*574C=
ENST00000537682.5:c.*574C=	ENSP00000438611.1:n.*574C=
ENST00000538326.5:c.*923C=	ENSP00000437486.1:n.*923C=
ENST00000539145.5:c.1219C=	ENSP00000444471.1:n.1219C=
ENST00000541159.5:c.1840C=	ENSP00000438711.1:n.1840C=
ENST00000542898.5:c.*574C=	ENSP00000444615.1:n.*574C=
ENST00000570511.5:c.1703C=	ENSP00000458312.1:n.1703C=
ENST00000572244.5:c.988C=	ENSP00000461186.1:n.988C=
ENST00000574583.5:c.1070C=	ENSP00000460269.1:n.1070C=
ENST00000576315.5:c.1103C=	ENSP00000460551.1:n.1103C=
ENST00000621655.1:c.1835C=	ENSP00000481436.1:n.1835C=
NM_000243.2:c.2298C= , LRG_190t1:c.2298C=	NP_000234.1:p.Asn766=
NM_001198536.1:c.*502C=	NP_001185465.1:n.*502C=
XM_017023236.2:c.2295C=	XP_016878725.1:p.Asn765=
NM_000243.3:c.2298C= MANE Select	NP_000234.1:p.Asn766=
NM_001198536.2:c.*502C=	NP_001185465.2:n.*502C=