Canonical Allele Identifier: CA2202658448

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243041T= , CM000678.2:g.3243041T=	GRCh38
NC_000016.9:g.3293041T= , CM000678.1:g.3293041T=	GRCh37
NC_000016.8:g.3233042T=	NCBI36
NG_007871.1:g.18587A= , LRG_190:g.18587A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1567A=
ENST00000219596.6:c.*100A= MANE Select	ENSP00000219596.1:n.*100A=
ENST00000219596.5:c.*100A=	ENSP00000219596.1:n.*100A=
ENST00000339854.8:c.*100A=	ENSP00000339639.4:n.*100A=
ENST00000536980.5:c.*722A=	ENSP00000444178.1:n.*722A=
ENST00000537682.5:c.*722A=	ENSP00000438611.1:n.*722A=
ENST00000538326.5:c.*1071A=	ENSP00000437486.1:n.*1071A=
ENST00000542898.5:c.*722A=	ENSP00000444615.1:n.*722A=
NM_000243.2:c.*100A= , LRG_190t1:c.*100A=	NP_000234.1:n.*100A=
NM_001198536.1:c.*650A=	NP_001185465.1:n.*650A=
NM_000243.3:c.*100A= MANE Select	NP_000234.1:n.*100A=
NM_001198536.2:c.*650A=	NP_001185465.2:n.*650A=