Canonical Allele Identifier: CA2202658508

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243150C= , CM000678.2:g.3243150C=	GRCh38
NC_000016.9:g.3293150C= , CM000678.1:g.3293150C=	GRCh37
NC_000016.8:g.3233151C=	NCBI36
NG_007871.1:g.18478G= , LRG_190:g.18478G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1458G=
ENST00000219596.6:c.2337G= MANE Select	ENSP00000219596.1:p.Gly779=
ENST00000219596.5:c.2337G=	ENSP00000219596.1:p.Gly779=
ENST00000339854.8:c.1797G=	ENSP00000339639.4:p.Gly599=
ENST00000536379.5:c.1704G=	ENSP00000445079.1:p.Gly568=
ENST00000536980.5:c.*613G=	ENSP00000444178.1:n.*613G=
ENST00000537682.5:c.*613G=	ENSP00000438611.1:n.*613G=
ENST00000538326.5:c.*962G=	ENSP00000437486.1:n.*962G=
ENST00000539145.5:c.1258G=	ENSP00000444471.1:n.1258G=
ENST00000541159.5:c.1879G=	ENSP00000438711.1:n.1879G=
ENST00000542898.5:c.*613G=	ENSP00000444615.1:n.*613G=
ENST00000570511.5:c.1742G=	ENSP00000458312.1:n.1742G=
ENST00000572244.5:c.1027G=	ENSP00000461186.1:n.1027G=
ENST00000574583.5:c.1109G=	ENSP00000460269.1:n.1109G=
ENST00000576315.5:c.1142G=	ENSP00000460551.1:n.1142G=
ENST00000621655.1:c.1874G=	ENSP00000481436.1:n.1874G=
NM_000243.2:c.2337G= , LRG_190t1:c.2337G=	NP_000234.1:p.Gly779=
NM_001198536.1:c.*541G=	NP_001185465.1:n.*541G=
XM_017023236.2:c.2334G=	XP_016878725.1:p.Gly778=
NM_000243.3:c.2337G= MANE Select	NP_000234.1:p.Gly779=
NM_001198536.2:c.*541G=	NP_001185465.2:n.*541G=