Canonical Allele Identifier: CA2202665444

Gene: MEFV

Linked Data

• dbSNP Id: rs1959095863

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3255048_3255051dup , CM000678.2:g.3255048_3255051dup	GRCh38
NC_000016.9:g.3305048_3305051dup , CM000678.1:g.3305048_3305051dup	GRCh37
NC_000016.8:g.3245049_3245052dup	NCBI36
NG_007871.1:g.6577_6580dup , LRG_190:g.6577_6580dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219596.6:c.278-261_278-258dup MANE Select	ENSP00000219596.1:n.278-261_278-258dup
ENST00000219596.5:c.278-261_278-258dup	ENSP00000219596.1:n.278-261_278-258dup
ENST00000339854.8:c.277+1260_277+1263dup	ENSP00000339639.4:n.277+1260_277+1263dup
ENST00000536379.5:c.277+1260_277+1263dup	ENSP00000445079.1:n.277+1260_277+1263dup
ENST00000536980.5:c.277+1260_277+1263dup	ENSP00000444178.1:n.277+1260_277+1263dup
ENST00000537682.5:c.278-261_278-258dup	ENSP00000438611.1:n.278-261_278-258dup
ENST00000538326.5:c.278-261_278-258dup	ENSP00000437486.1:n.278-261_278-258dup
ENST00000539145.5:c.277+1260_277+1263dup	ENSP00000444471.1:n.277+1260_277+1263dup
ENST00000541159.5:c.277+1260_277+1263dup	ENSP00000438711.1:n.277+1260_277+1263dup
ENST00000542898.5:c.278-261_278-258dup	ENSP00000444615.1:n.278-261_278-258dup
ENST00000570511.5:c.278-261_278-258dup	ENSP00000458312.1:n.278-261_278-258dup
ENST00000572244.5:c.277+1260_277+1263dup	ENSP00000461186.1:n.277+1260_277+1263dup
ENST00000574583.5:c.277+1260_277+1263dup	ENSP00000460269.1:n.277+1260_277+1263dup
ENST00000576315.5:c.277+1260_277+1263dup	ENSP00000460551.1:n.277+1260_277+1263dup
ENST00000621655.1:c.277+1260_277+1263dup	ENSP00000481436.1:n.277+1260_277+1263dup
NM_000243.2:c.278-261_278-258dup , LRG_190t1:c.278-261_278-258dup	NP_000234.1:n.278-261_278-258dup
NM_001198536.1:c.277+1260_277+1263dup	NP_001185465.1:n.277+1260_277+1263dup
XM_017023236.2:c.278-261_278-258dup	XP_016878725.1:n.278-261_278-258dup
XR_001751903.1:n.467-261_467-258dup
NM_000243.3:c.278-261_278-258dup MANE Select	NP_000234.1:n.278-261_278-258dup
NM_001198536.2:c.277+1260_277+1263dup	NP_001185465.2:n.277+1260_277+1263dup