Canonical Allele Identifier: CA2202658546

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243228T= , CM000678.2:g.3243228T=	GRCh38
NC_000016.9:g.3293228T= , CM000678.1:g.3293228T=	GRCh37
NC_000016.8:g.3233229T=	NCBI36
NG_007871.1:g.18400A= , LRG_190:g.18400A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1380A=
ENST00000219596.6:c.2259A= MANE Select	ENSP00000219596.1:p.Gln753=
ENST00000219596.5:c.2259A=	ENSP00000219596.1:p.Gln753=
ENST00000339854.8:c.1719A=	ENSP00000339639.4:p.Gln573=
ENST00000536379.5:c.1626A=	ENSP00000445079.1:p.Gln542=
ENST00000536980.5:c.*535A=	ENSP00000444178.1:n.*535A=
ENST00000537682.5:c.*535A=	ENSP00000438611.1:n.*535A=
ENST00000538326.5:c.*884A=	ENSP00000437486.1:n.*884A=
ENST00000539145.5:c.1180A=	ENSP00000444471.1:n.1180A=
ENST00000541159.5:c.1801A=	ENSP00000438711.1:n.1801A=
ENST00000542898.5:c.*535A=	ENSP00000444615.1:n.*535A=
ENST00000570511.5:c.1664A=	ENSP00000458312.1:n.1664A=
ENST00000572244.5:c.949A=	ENSP00000461186.1:n.949A=
ENST00000574583.5:c.1031A=	ENSP00000460269.1:n.1031A=
ENST00000576315.5:c.1064A=	ENSP00000460551.1:n.1064A=
ENST00000621655.1:c.1796A=	ENSP00000481436.1:n.1796A=
NM_000243.2:c.2259A= , LRG_190t1:c.2259A=	NP_000234.1:p.Gln753=
NM_001198536.1:c.*463A=	NP_001185465.1:n.*463A=
XM_017023236.2:c.2256A=	XP_016878725.1:p.Gln752=
NM_000243.3:c.2259A= MANE Select	NP_000234.1:p.Gln753=
NM_001198536.2:c.*463A=	NP_001185465.2:n.*463A=