Canonical Allele Identifier: CA2202658429

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243002A= , CM000678.2:g.3243002A=	GRCh38
NC_000016.9:g.3293002A= , CM000678.1:g.3293002A=	GRCh37
NC_000016.8:g.3233003A=	NCBI36
NG_007871.1:g.18626T= , LRG_190:g.18626T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1606T=
ENST00000219596.6:c.*139T= MANE Select	ENSP00000219596.1:n.*139T=
ENST00000219596.5:c.*139T=	ENSP00000219596.1:n.*139T=
ENST00000339854.8:c.*139T=	ENSP00000339639.4:n.*139T=
ENST00000536980.5:c.*761T=	ENSP00000444178.1:n.*761T=
ENST00000537682.5:c.*761T=	ENSP00000438611.1:n.*761T=
ENST00000538326.5:c.*1110T=	ENSP00000437486.1:n.*1110T=
ENST00000542898.5:c.*761T=	ENSP00000444615.1:n.*761T=
NM_000243.2:c.*139T= , LRG_190t1:c.*139T=	NP_000234.1:n.*139T=
NM_001198536.1:c.*689T=	NP_001185465.1:n.*689T=
NM_000243.3:c.*139T= MANE Select	NP_000234.1:n.*139T=
NM_001198536.2:c.*689T=	NP_001185465.2:n.*689T=