Canonical Allele Identifier: CA915949043

Gene: MEFV

Linked Data

• ClinVar Variation Id: 643549
• ClinVar RCV Id: RCV000797275
• dbSNP Id: rs1596350035

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243411_3243413delinsCAC , CM000678.2:g.3243411_3243413delinsCAC	GRCh38
NC_000016.9:g.3293411_3293413delinsCAC , CM000678.1:g.3293411_3293413delinsCAC	GRCh37
NC_000016.8:g.3233412_3233414delinsCAC	NCBI36
NG_007871.1:g.18215_18217delinsGTG , LRG_190:g.18215_18217delinsGTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000697124.1:n.1195_1197delinsGTG
ENST00000219596.6:c.2074_2076delinsGTG MANE Select	ENSP00000219596.1:p.Ile692Val
ENST00000219596.5:c.2074_2076delinsGTG	ENSP00000219596.1:p.Ile692Val
ENST00000339854.8:c.1534_1536delinsGTG	ENSP00000339639.4:p.Ile512Val
ENST00000536379.5:c.1441_1443delinsGTG	ENSP00000445079.1:p.Ile481Val
ENST00000536980.5:c.*350_*352delinsGTG	ENSP00000444178.1:n.*350_*352delinsGTG
ENST00000537682.5:c.*350_*352delinsGTG	ENSP00000438611.1:n.*350_*352delinsGTG
ENST00000538326.5:c.*699_*701delinsGTG	ENSP00000437486.1:n.*699_*701delinsGTG
ENST00000539145.5:c.995_997delinsGTG	ENSP00000444471.1:n.995_997delinsGTG
ENST00000541159.5:c.1616_1618delinsGTG	ENSP00000438711.1:n.1616_1618delinsGTG
ENST00000542898.5:c.*350_*352delinsGTG	ENSP00000444615.1:n.*350_*352delinsGTG
ENST00000570511.5:c.1479_1481delinsGTG	ENSP00000458312.1:n.1479_1481delinsGTG
ENST00000572244.5:c.764_766delinsGTG	ENSP00000461186.1:n.764_766delinsGTG
ENST00000574583.5:c.846_848delinsGTG	ENSP00000460269.1:n.846_848delinsGTG
ENST00000576315.5:c.879_881delinsGTG	ENSP00000460551.1:n.879_881delinsGTG
ENST00000621655.1:c.1611_1613delinsGTG	ENSP00000481436.1:n.1611_1613delinsGTG
NM_000243.2:c.2074_2076delinsGTG , LRG_190t1:c.2074_2076delinsGTG	NP_000234.1:p.Ile692Val
NM_001198536.1:c.*278_*280delinsGTG	NP_001185465.1:n.*278_*280delinsGTG
XM_017023236.2:c.2071_2073delinsGTG	XP_016878725.1:p.Ile691Val
NM_000243.3:c.2074_2076delinsGTG MANE Select	NP_000234.1:p.Ile692Val
NM_001198536.2:c.*278_*280delinsGTG	NP_001185465.2:n.*278_*280delinsGTG