Canonical Allele Identifier: CA276955203

Gene: MEFV

Linked Data

• dbSNP Id: rs1022125045
• gnomAD v3: 16-3243521-C-T
• gnomAD v4: 16-3243521-C-T
• MyVariant Identifiers: chr16:g.3293521C>T (hg19) ; chr16:g.3243521C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243521C>T , CM000678.2:g.3243521C>T	GRCh38
NC_000016.9:g.3293521C>T , CM000678.1:g.3293521C>T	GRCh37
NC_000016.8:g.3233522C>T	NCBI36
NG_007871.1:g.18107G>A , LRG_190:g.18107G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1087G>A
ENST00000219596.6:c.1966G>A MANE Select	ENSP00000219596.1:p.Glu656Lys
ENST00000219596.5:c.1966G>A	ENSP00000219596.1:p.Glu656Lys
ENST00000339854.8:c.1426G>A	ENSP00000339639.4:p.Glu476Lys
ENST00000536379.5:c.1333G>A	ENSP00000445079.1:p.Glu445Lys
ENST00000536980.5:c.*242G>A	ENSP00000444178.1:n.*242G>A
ENST00000537682.5:c.*242G>A	ENSP00000438611.1:n.*242G>A
ENST00000538326.5:c.*591G>A	ENSP00000437486.1:n.*591G>A
ENST00000539145.5:c.887G>A	ENSP00000444471.1:n.887G>A
ENST00000541159.5:c.1508G>A	ENSP00000438711.1:n.1508G>A
ENST00000542898.5:c.*242G>A	ENSP00000444615.1:n.*242G>A
ENST00000570511.5:c.1371G>A	ENSP00000458312.1:n.1371G>A
ENST00000572244.5:c.656G>A	ENSP00000461186.1:n.656G>A
ENST00000574583.5:c.738G>A	ENSP00000460269.1:n.738G>A
ENST00000576315.5:c.771G>A	ENSP00000460551.1:n.771G>A
ENST00000621655.1:c.1503G>A	ENSP00000481436.1:n.1503G>A
NM_000243.2:c.1966G>A , LRG_190t1:c.1966G>A	NP_000234.1:p.Glu656Lys
NM_001198536.1:c.*170G>A	NP_001185465.1:n.*170G>A
XM_017023236.2:c.1963G>A	XP_016878725.1:p.Glu655Lys
NM_000243.3:c.1966G>A MANE Select	NP_000234.1:p.Glu656Lys
NM_001198536.2:c.*170G>A	NP_001185465.2:n.*170G>A