Canonical Allele Identifier: CA2202658513

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243158C= , CM000678.2:g.3243158C=	GRCh38
NC_000016.9:g.3293158C= , CM000678.1:g.3293158C=	GRCh37
NC_000016.8:g.3233159C=	NCBI36
NG_007871.1:g.18470G= , LRG_190:g.18470G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1450G=
ENST00000219596.6:c.2329G= MANE Select	ENSP00000219596.1:p.Gly777=
ENST00000219596.5:c.2329G=	ENSP00000219596.1:p.Gly777=
ENST00000339854.8:c.1789G=	ENSP00000339639.4:p.Gly597=
ENST00000536379.5:c.1696G=	ENSP00000445079.1:p.Gly566=
ENST00000536980.5:c.*605G=	ENSP00000444178.1:n.*605G=
ENST00000537682.5:c.*605G=	ENSP00000438611.1:n.*605G=
ENST00000538326.5:c.*954G=	ENSP00000437486.1:n.*954G=
ENST00000539145.5:c.1250G=	ENSP00000444471.1:n.1250G=
ENST00000541159.5:c.1871G=	ENSP00000438711.1:n.1871G=
ENST00000542898.5:c.*605G=	ENSP00000444615.1:n.*605G=
ENST00000570511.5:c.1734G=	ENSP00000458312.1:n.1734G=
ENST00000572244.5:c.1019G=	ENSP00000461186.1:n.1019G=
ENST00000574583.5:c.1101G=	ENSP00000460269.1:n.1101G=
ENST00000576315.5:c.1134G=	ENSP00000460551.1:n.1134G=
ENST00000621655.1:c.1866G=	ENSP00000481436.1:n.1866G=
NM_000243.2:c.2329G= , LRG_190t1:c.2329G=	NP_000234.1:p.Gly777=
NM_001198536.1:c.*533G=	NP_001185465.1:n.*533G=
XM_017023236.2:c.2326G=	XP_016878725.1:p.Gly776=
NM_000243.3:c.2329G= MANE Select	NP_000234.1:p.Gly777=
NM_001198536.2:c.*533G=	NP_001185465.2:n.*533G=