Canonical Allele Identifier: CA2202658667

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243439G= , CM000678.2:g.3243439G=	GRCh38
NC_000016.9:g.3293439G= , CM000678.1:g.3293439G=	GRCh37
NC_000016.8:g.3233440G=	NCBI36
NG_007871.1:g.18189C= , LRG_190:g.18189C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1169C=
ENST00000219596.6:c.2048C= MANE Select	ENSP00000219596.1:p.Ser683=
ENST00000219596.5:c.2048C=	ENSP00000219596.1:p.Ser683=
ENST00000339854.8:c.1508C=	ENSP00000339639.4:p.Ser503=
ENST00000536379.5:c.1415C=	ENSP00000445079.1:p.Ser472=
ENST00000536980.5:c.*324C=	ENSP00000444178.1:n.*324C=
ENST00000537682.5:c.*324C=	ENSP00000438611.1:n.*324C=
ENST00000538326.5:c.*673C=	ENSP00000437486.1:n.*673C=
ENST00000539145.5:c.969C=	ENSP00000444471.1:n.969C=
ENST00000541159.5:c.1590C=	ENSP00000438711.1:n.1590C=
ENST00000542898.5:c.*324C=	ENSP00000444615.1:n.*324C=
ENST00000570511.5:c.1453C=	ENSP00000458312.1:n.1453C=
ENST00000572244.5:c.738C=	ENSP00000461186.1:n.738C=
ENST00000574583.5:c.820C=	ENSP00000460269.1:n.820C=
ENST00000576315.5:c.853C=	ENSP00000460551.1:n.853C=
ENST00000621655.1:c.1585C=	ENSP00000481436.1:n.1585C=
NM_000243.2:c.2048C= , LRG_190t1:c.2048C=	NP_000234.1:p.Ser683=
NM_001198536.1:c.*252C=	NP_001185465.1:n.*252C=
XM_017023236.2:c.2045C=	XP_016878725.1:p.Ser682=
NM_000243.3:c.2048C= MANE Select	NP_000234.1:p.Ser683=
NM_001198536.2:c.*252C=	NP_001185465.2:n.*252C=