Canonical Allele Identifier: CA2202658942

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243972A= , CM000678.2:g.3243972A=	GRCh38
NC_000016.9:g.3293972A= , CM000678.1:g.3293972A=	GRCh37
NC_000016.8:g.3233973A=	NCBI36
NG_007871.1:g.17656T= , LRG_190:g.17656T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.881-80T=
ENST00000219596.6:c.1760-80T= MANE Select	ENSP00000219596.1:n.1760-80T=
ENST00000219596.5:c.1760-80T=	ENSP00000219596.1:n.1760-80T=
ENST00000339854.8:c.1220-80T=	ENSP00000339639.4:n.1220-80T=
ENST00000536379.5:c.1127-80T=	ENSP00000445079.1:n.1127-80T=
ENST00000536980.5:c.*36-80T=	ENSP00000444178.1:n.*36-80T=
ENST00000537682.5:c.*36-80T=	ENSP00000438611.1:n.*36-80T=
ENST00000538326.5:c.*385-80T=	ENSP00000437486.1:n.*385-80T=
ENST00000539145.5:c.681-80T=	ENSP00000444471.1:n.681-80T=
ENST00000541159.5:c.1222T=	ENSP00000438711.1:p.Leu408=
ENST00000542898.5:c.*36-80T=	ENSP00000444615.1:n.*36-80T=
ENST00000570511.5:c.1165-80T=	ENSP00000458312.1:n.1165-80T=
ENST00000572244.5:c.450-80T=	ENSP00000461186.1:n.450-80T=
ENST00000574583.5:c.532-80T=	ENSP00000460269.1:n.532-80T=
ENST00000576315.5:c.565-80T=	ENSP00000460551.1:n.565-80T=
ENST00000621655.1:c.1219-2T=	ENSP00000481436.1:n.1219-2T=
NM_000243.2:c.1760-80T= , LRG_190t1:c.1760-80T=	NP_000234.1:n.1760-80T=
NM_001198536.1:c.1222T=	NP_001185465.1:p.Leu408=
XM_017023236.2:c.1757-80T=	XP_016878725.1:n.1757-80T=
XR_001751903.1:n.2067-80T=
NM_000243.3:c.1760-80T= MANE Select	NP_000234.1:n.1760-80T=
NM_001198536.2:c.1222T=	NP_001185465.2:p.Leu408=