Canonical Allele Identifier: CA2202660601

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3247096A= , CM000678.2:g.3247096A=	GRCh38
NC_000016.9:g.3297096A= , CM000678.1:g.3297096A=	GRCh37
NC_000016.8:g.3237097A=	NCBI36
NG_007871.1:g.14532T= , LRG_190:g.14532T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219596.6:c.1507T= MANE Select	ENSP00000219596.1:p.Ser503=
ENST00000219596.5:c.1507T=	ENSP00000219596.1:p.Ser503=
ENST00000339854.8:c.967T=	ENSP00000339639.4:p.Ser323=
ENST00000536379.5:c.874T=	ENSP00000445079.1:p.Ser292=
ENST00000536980.5:c.874T=	ENSP00000444178.1:p.Ser292=
ENST00000537682.5:c.1507T=	ENSP00000438611.1:p.Ser503=
ENST00000538326.5:c.*132T=	ENSP00000437486.1:n.*132T=
ENST00000539145.5:c.428T=	ENSP00000444471.1:n.428T=
ENST00000539154.1:n.872T=
ENST00000541159.5:c.874T=	ENSP00000438711.1:p.Ser292=
ENST00000542898.5:c.1600T=	ENSP00000444615.1:p.Ser534=
ENST00000570511.5:c.1061T=	ENSP00000458312.1:n.1061T=
ENST00000572244.5:c.278-549T=	ENSP00000461186.1:n.278-549T=
ENST00000574583.5:c.428T=	ENSP00000460269.1:n.428T=
ENST00000576315.5:c.428T=	ENSP00000460551.1:n.428T=
ENST00000621655.1:c.874T=	ENSP00000481436.1:p.Ser292=
NM_000243.2:c.1507T= , LRG_190t1:c.1507T=	NP_000234.1:p.Ser503=
NM_001198536.1:c.874T=	NP_001185465.1:p.Ser292=
XM_017023236.2:c.1504T=	XP_016878725.1:p.Ser502=
XR_001751903.1:n.1696T=
NM_000243.3:c.1507T= MANE Select	NP_000234.1:p.Ser503=
NM_001198536.2:c.874T=	NP_001185465.2:p.Ser292=