Canonical Allele Identifier: CA2740096864

Gene: MEFV

Linked Data

• ClinVar Variation Id: 2982146
• ClinVar RCV Id: RCV003842792

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3247174_3247175delinsTC , CM000678.2:g.3247174_3247175delinsTC	GRCh38
NC_000016.9:g.3297174_3297175delinsTC , CM000678.1:g.3297174_3297175delinsTC	GRCh37
NC_000016.8:g.3237175_3237176delinsTC	NCBI36
NG_007871.1:g.14453_14454delinsGA , LRG_190:g.14453_14454delinsGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000219596.6:c.1428_1429delinsGA MANE Select	ENSP00000219596.1:p.Glu477Lys
ENST00000219596.5:c.1428_1429delinsGA	ENSP00000219596.1:p.Glu477Lys
ENST00000339854.8:c.888_889delinsGA	ENSP00000339639.4:p.Glu297Lys
ENST00000536379.5:c.795_796delinsGA	ENSP00000445079.1:p.Glu266Lys
ENST00000536980.5:c.795_796delinsGA	ENSP00000444178.1:p.Glu266Lys
ENST00000537682.5:c.1428_1429delinsGA	ENSP00000438611.1:p.Glu477Lys
ENST00000538326.5:c.*53_*54delinsGA	ENSP00000437486.1:n.*53_*54delinsGA
ENST00000539145.5:c.349_350delinsGA	ENSP00000444471.1:n.349_350delinsGA
ENST00000539154.1:n.793_794delinsGA
ENST00000541159.5:c.795_796delinsGA	ENSP00000438711.1:p.Glu266Lys
ENST00000542898.5:c.1521_1522delinsGA	ENSP00000444615.1:p.Glu508Lys
ENST00000570511.5:c.982_983delinsGA	ENSP00000458312.1:n.982_983delinsGA
ENST00000572244.5:c.278-628_278-627delinsGA	ENSP00000461186.1:n.278-628_278-627delins...
ENST00000574583.5:c.349_350delinsGA	ENSP00000460269.1:n.349_350delinsGA
ENST00000576315.5:c.349_350delinsGA	ENSP00000460551.1:n.349_350delinsGA
ENST00000621655.1:c.795_796delinsGA	ENSP00000481436.1:p.Glu266Lys
NM_000243.2:c.1428_1429delinsGA , LRG_190t1:c.1428_1429delinsGA	NP_000234.1:p.Glu477Lys
NM_001198536.1:c.795_796delinsGA	NP_001185465.1:p.Glu266Lys
XM_017023236.2:c.1425_1426delinsGA	XP_016878725.1:p.Glu476Lys
XR_001751903.1:n.1617_1618delinsGA
NM_000243.3:c.1428_1429delinsGA MANE Select	NP_000234.1:p.Glu477Lys
NM_001198536.2:c.795_796delinsGA	NP_001185465.2:p.Glu266Lys