Canonical Allele Identifier: CA2202658395

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3242940A= , CM000678.2:g.3242940A=	GRCh38
NC_000016.9:g.3292940A= , CM000678.1:g.3292940A=	GRCh37
NC_000016.8:g.3232941A=	NCBI36
NG_007871.1:g.18688T= , LRG_190:g.18688T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1668T=
ENST00000219596.6:c.*201T= MANE Select	ENSP00000219596.1:n.*201T=
ENST00000219596.5:c.*201T=	ENSP00000219596.1:n.*201T=
ENST00000339854.8:c.*201T=	ENSP00000339639.4:n.*201T=
ENST00000536980.5:c.*823T=	ENSP00000444178.1:n.*823T=
ENST00000537682.5:c.*823T=	ENSP00000438611.1:n.*823T=
ENST00000538326.5:c.*1172T=	ENSP00000437486.1:n.*1172T=
ENST00000542898.5:c.*823T=	ENSP00000444615.1:n.*823T=
NM_000243.2:c.*201T= , LRG_190t1:c.*201T=	NP_000234.1:n.*201T=
NM_001198536.1:c.*751T=	NP_001185465.1:n.*751T=
NM_000243.3:c.*201T= MANE Select	NP_000234.1:n.*201T=
NM_001198536.2:c.*751T=	NP_001185465.2:n.*751T=