Canonical Allele Identifier: CA394484687

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243206G>T , CM000678.2:g.3243206G>T	GRCh38
NC_000016.9:g.3293206G>T , CM000678.1:g.3293206G>T	GRCh37
NC_000016.8:g.3233207G>T	NCBI36
NG_007871.1:g.18422C>A , LRG_190:g.18422C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000243.3:c.2281C>A MANE Select	NP_000234.1:p.Arg761Ser
ENST00000219596.6:c.2281C>A MANE Select	ENSP00000219596.1:p.Arg761Ser
NM_000243.2:c.2281C>A , LRG_190t1:c.2281C>A	NP_000234.1:p.Arg761Ser
NM_001198536.1:c.*485C>A	NP_001185465.1:n.*485C>A
NM_001198536.2:c.*485C>A	NP_001185465.2:n.*485C>A
ENST00000219596.5:c.2281C>A	ENSP00000219596.1:p.Arg761Ser
ENST00000339854.8:c.1741C>A	ENSP00000339639.4:p.Arg581Ser
ENST00000536379.5:c.1648C>A	ENSP00000445079.1:p.Arg550Ser
ENST00000536980.5:c.*557C>A	ENSP00000444178.1:n.*557C>A
ENST00000537682.5:c.*557C>A	ENSP00000438611.1:n.*557C>A
ENST00000538326.5:c.*906C>A	ENSP00000437486.1:n.*906C>A
ENST00000539145.5:c.1202C>A	ENSP00000444471.1:n.1202C>A
ENST00000541159.5:c.1823C>A	ENSP00000438711.1:n.1823C>A
ENST00000542898.5:c.*557C>A	ENSP00000444615.1:n.*557C>A
ENST00000570511.5:c.1686C>A	ENSP00000458312.1:n.1686C>A
ENST00000572244.5:c.971C>A	ENSP00000461186.1:n.971C>A
ENST00000574583.5:c.1053C>A	ENSP00000460269.1:n.1053C>A
ENST00000576315.5:c.1086C>A	ENSP00000460551.1:n.1086C>A
ENST00000621655.1:c.1818C>A	ENSP00000481436.1:n.1818C>A
ENST00000697124.1:n.1402C>A
XM_017023236.2:c.2278C>A	XP_016878725.1:p.Arg760Ser