Canonical Allele Identifier: CA2631333885

Gene: MEFV

Linked Data

• gnomAD v4: 16-3243549-C-CG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243551dup , CM000678.2:g.3243551dup	GRCh38
NC_000016.9:g.3293551dup , CM000678.1:g.3293551dup	GRCh37
NC_000016.8:g.3233552dup	NCBI36
NG_007871.1:g.18078dup , LRG_190:g.18078dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000697124.1:n.1058dup
ENST00000219596.6:c.1937dup MANE Select	ENSP00000219596.1:p.Ser647GlufsTer?
ENST00000219596.5:c.1937dup	ENSP00000219596.1:p.Ser647GlufsTer?
ENST00000339854.8:c.1397dup	ENSP00000339639.4:p.Ser467GlufsTer?
ENST00000536379.5:c.1304dup	ENSP00000445079.1:p.Ser436GlufsTer?
ENST00000536980.5:c.*213dup	ENSP00000444178.1:n.*213dup
ENST00000537682.5:c.*213dup	ENSP00000438611.1:n.*213dup
ENST00000538326.5:c.*562dup	ENSP00000437486.1:n.*562dup
ENST00000539145.5:c.858dup	ENSP00000444471.1:n.858dup
ENST00000541159.5:c.1479dup	ENSP00000438711.1:n.1479dup
ENST00000542898.5:c.*213dup	ENSP00000444615.1:n.*213dup
ENST00000570511.5:c.1342dup	ENSP00000458312.1:n.1342dup
ENST00000572244.5:c.627dup	ENSP00000461186.1:n.627dup
ENST00000574583.5:c.709dup	ENSP00000460269.1:n.709dup
ENST00000576315.5:c.742dup	ENSP00000460551.1:n.742dup
ENST00000621655.1:c.1474dup	ENSP00000481436.1:n.1474dup
NM_000243.2:c.1937dup , LRG_190t1:c.1937dup	NP_000234.1:p.Ser647GlufsTer?
NM_001198536.1:c.*141dup	NP_001185465.1:n.*141dup
XM_017023236.2:c.1934dup	XP_016878725.1:p.Ser646GlufsTer?
NM_000243.3:c.1937dup MANE Select	NP_000234.1:p.Ser647GlufsTer?
NM_001198536.2:c.*141dup	NP_001185465.2:n.*141dup