Canonical Allele Identifier: CA915949042

Gene: MEFV

Linked Data

• ClinVar Variation Id: 803175
• ClinVar RCV Id: RCV000989469
• dbSNP Id: rs1596349724

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243158dup , CM000678.2:g.3243158dup	GRCh38
NC_000016.9:g.3293158dup , CM000678.1:g.3293158dup	GRCh37
NC_000016.8:g.3233159dup	NCBI36
NG_007871.1:g.18471dup , LRG_190:g.18471dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1451dup
ENST00000219596.6:c.2330dup MANE Select	ENSP00000219596.1:p.Gln778SerfsTer4
ENST00000219596.5:c.2330dup	ENSP00000219596.1:p.Gln778SerfsTer4
ENST00000339854.8:c.1790dup	ENSP00000339639.4:p.Gln598SerfsTer4
ENST00000536379.5:c.1697dup	ENSP00000445079.1:p.Gln567SerfsTer4
ENST00000536980.5:c.*606dup	ENSP00000444178.1:n.*606dup
ENST00000537682.5:c.*606dup	ENSP00000438611.1:n.*606dup
ENST00000538326.5:c.*955dup	ENSP00000437486.1:n.*955dup
ENST00000539145.5:c.1251dup	ENSP00000444471.1:n.1251dup
ENST00000541159.5:c.1872dup	ENSP00000438711.1:n.1872dup
ENST00000542898.5:c.*606dup	ENSP00000444615.1:n.*606dup
ENST00000570511.5:c.1735dup	ENSP00000458312.1:n.1735dup
ENST00000572244.5:c.1020dup	ENSP00000461186.1:n.1020dup
ENST00000574583.5:c.1102dup	ENSP00000460269.1:n.1102dup
ENST00000576315.5:c.1135dup	ENSP00000460551.1:n.1135dup
ENST00000621655.1:c.1867dup	ENSP00000481436.1:n.1867dup
NM_000243.2:c.2330dup , LRG_190t1:c.2330dup	NP_000234.1:p.Gln778SerfsTer4
NM_001198536.1:c.*534dup	NP_001185465.1:n.*534dup
XM_017023236.2:c.2327dup	XP_016878725.1:p.Gln777SerfsTer4
NM_000243.3:c.2330dup MANE Select	NP_000234.1:p.Gln778SerfsTer4
NM_001198536.2:c.*534dup	NP_001185465.2:n.*534dup