Canonical Allele Identifier: CA2202658411

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3242968G= , CM000678.2:g.3242968G=	GRCh38
NC_000016.9:g.3292968G= , CM000678.1:g.3292968G=	GRCh37
NC_000016.8:g.3232969G=	NCBI36
NG_007871.1:g.18660C= , LRG_190:g.18660C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1640C=
ENST00000219596.6:c.*173C= MANE Select	ENSP00000219596.1:n.*173C=
ENST00000219596.5:c.*173C=	ENSP00000219596.1:n.*173C=
ENST00000339854.8:c.*173C=	ENSP00000339639.4:n.*173C=
ENST00000536980.5:c.*795C=	ENSP00000444178.1:n.*795C=
ENST00000537682.5:c.*795C=	ENSP00000438611.1:n.*795C=
ENST00000538326.5:c.*1144C=	ENSP00000437486.1:n.*1144C=
ENST00000542898.5:c.*795C=	ENSP00000444615.1:n.*795C=
NM_000243.2:c.*173C= , LRG_190t1:c.*173C=	NP_000234.1:n.*173C=
NM_001198536.1:c.*723C=	NP_001185465.1:n.*723C=
NM_000243.3:c.*173C= MANE Select	NP_000234.1:n.*173C=
NM_001198536.2:c.*723C=	NP_001185465.2:n.*723C=