Canonical Allele Identifier: CA2202658672

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243447C= , CM000678.2:g.3243447C=	GRCh38
NC_000016.9:g.3293447C= , CM000678.1:g.3293447C=	GRCh37
NC_000016.8:g.3233448C=	NCBI36
NG_007871.1:g.18181G= , LRG_190:g.18181G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1161G=
ENST00000219596.6:c.2040G= MANE Select	ENSP00000219596.1:p.Met680=
ENST00000219596.5:c.2040G=	ENSP00000219596.1:p.Met680=
ENST00000339854.8:c.1500G=	ENSP00000339639.4:p.Met500=
ENST00000536379.5:c.1407G=	ENSP00000445079.1:p.Met469=
ENST00000536980.5:c.*316G=	ENSP00000444178.1:n.*316G=
ENST00000537682.5:c.*316G=	ENSP00000438611.1:n.*316G=
ENST00000538326.5:c.*665G=	ENSP00000437486.1:n.*665G=
ENST00000539145.5:c.961G=	ENSP00000444471.1:n.961G=
ENST00000541159.5:c.1582G=	ENSP00000438711.1:n.1582G=
ENST00000542898.5:c.*316G=	ENSP00000444615.1:n.*316G=
ENST00000570511.5:c.1445G=	ENSP00000458312.1:n.1445G=
ENST00000572244.5:c.730G=	ENSP00000461186.1:n.730G=
ENST00000574583.5:c.812G=	ENSP00000460269.1:n.812G=
ENST00000576315.5:c.845G=	ENSP00000460551.1:n.845G=
ENST00000621655.1:c.1577G=	ENSP00000481436.1:n.1577G=
NM_000243.2:c.2040G= , LRG_190t1:c.2040G=	NP_000234.1:p.Met680=
NM_001198536.1:c.*244G=	NP_001185465.1:n.*244G=
XM_017023236.2:c.2037G=	XP_016878725.1:p.Met679=
NM_000243.3:c.2040G= MANE Select	NP_000234.1:p.Met680=
NM_001198536.2:c.*244G=	NP_001185465.2:n.*244G=