Canonical Allele Identifier: CA2202658526

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243184G= , CM000678.2:g.3243184G=	GRCh38
NC_000016.9:g.3293184G= , CM000678.1:g.3293184G=	GRCh37
NC_000016.8:g.3233185G=	NCBI36
NG_007871.1:g.18444C= , LRG_190:g.18444C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1424C=
ENST00000219596.6:c.2303C= MANE Select	ENSP00000219596.1:p.Ala768=
ENST00000219596.5:c.2303C=	ENSP00000219596.1:p.Ala768=
ENST00000339854.8:c.1763C=	ENSP00000339639.4:p.Ala588=
ENST00000536379.5:c.1670C=	ENSP00000445079.1:p.Ala557=
ENST00000536980.5:c.*579C=	ENSP00000444178.1:n.*579C=
ENST00000537682.5:c.*579C=	ENSP00000438611.1:n.*579C=
ENST00000538326.5:c.*928C=	ENSP00000437486.1:n.*928C=
ENST00000539145.5:c.1224C=	ENSP00000444471.1:n.1224C=
ENST00000541159.5:c.1845C=	ENSP00000438711.1:n.1845C=
ENST00000542898.5:c.*579C=	ENSP00000444615.1:n.*579C=
ENST00000570511.5:c.1708C=	ENSP00000458312.1:n.1708C=
ENST00000572244.5:c.993C=	ENSP00000461186.1:n.993C=
ENST00000574583.5:c.1075C=	ENSP00000460269.1:n.1075C=
ENST00000576315.5:c.1108C=	ENSP00000460551.1:n.1108C=
ENST00000621655.1:c.1840C=	ENSP00000481436.1:n.1840C=
NM_000243.2:c.2303C= , LRG_190t1:c.2303C=	NP_000234.1:p.Ala768=
NM_001198536.1:c.*507C=	NP_001185465.1:n.*507C=
XM_017023236.2:c.2300C=	XP_016878725.1:p.Ala767=
NM_000243.3:c.2303C= MANE Select	NP_000234.1:p.Ala768=
NM_001198536.2:c.*507C=	NP_001185465.2:n.*507C=