Canonical Allele Identifier: CA2202658648

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243407T= , CM000678.2:g.3243407T=	GRCh38
NC_000016.9:g.3293407T= , CM000678.1:g.3293407T=	GRCh37
NC_000016.8:g.3233408T=	NCBI36
NG_007871.1:g.18221A= , LRG_190:g.18221A=

Transcript Alleles

HGVS	Amino-acid Change
NM_000243.3:c.2080A= MANE Select	NP_000234.1:p.Met694=
ENST00000219596.6:c.2080A= MANE Select	ENSP00000219596.1:p.Met694=
NM_000243.2:c.2080A= , LRG_190t1:c.2080A=	NP_000234.1:p.Met694=
NM_001198536.1:c.*284A=	NP_001185465.1:n.*284A=
NM_001198536.2:c.*284A=	NP_001185465.2:n.*284A=
ENST00000219596.5:c.2080A=	ENSP00000219596.1:p.Met694=
ENST00000339854.8:c.1540A=	ENSP00000339639.4:p.Met514=
ENST00000536379.5:c.1447A=	ENSP00000445079.1:p.Met483=
ENST00000536980.5:c.*356A=	ENSP00000444178.1:n.*356A=
ENST00000537682.5:c.*356A=	ENSP00000438611.1:n.*356A=
ENST00000538326.5:c.*705A=	ENSP00000437486.1:n.*705A=
ENST00000539145.5:c.1001A=	ENSP00000444471.1:n.1001A=
ENST00000541159.5:c.1622A=	ENSP00000438711.1:n.1622A=
ENST00000542898.5:c.*356A=	ENSP00000444615.1:n.*356A=
ENST00000570511.5:c.1485A=	ENSP00000458312.1:n.1485A=
ENST00000572244.5:c.770A=	ENSP00000461186.1:n.770A=
ENST00000574583.5:c.852A=	ENSP00000460269.1:n.852A=
ENST00000576315.5:c.885A=	ENSP00000460551.1:n.885A=
ENST00000621655.1:c.1617A=	ENSP00000481436.1:n.1617A=
ENST00000697124.1:n.1201A=
XM_017023236.2:c.2077A=	XP_016878725.1:p.Met693=