Canonical Allele Identifier: CA394458229

Gene: MEFV

Linked Data

• MyVariant Identifiers: chr16:g.3294512T>C (hg19) ; chr16:g.3244512T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3244512T>C , CM000678.2:g.3244512T>C	GRCh38
NC_000016.9:g.3294512T>C , CM000678.1:g.3294512T>C	GRCh37
NC_000016.8:g.3234513T>C	NCBI36
NG_007871.1:g.17116A>G , LRG_190:g.17116A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.808A>G
ENST00000219596.6:c.1687A>G MANE Select	ENSP00000219596.1:p.Lys563Glu
ENST00000219596.5:c.1687A>G	ENSP00000219596.1:p.Lys563Glu
ENST00000339854.8:c.1147A>G	ENSP00000339639.4:p.Lys383Glu
ENST00000536379.5:c.1054A>G	ENSP00000445079.1:p.Lys352Glu
ENST00000536980.5:c.1054A>G	ENSP00000444178.1:p.Lys352Glu
ENST00000537682.5:c.1687A>G	ENSP00000438611.1:p.Lys563Glu
ENST00000538326.5:c.*312A>G	ENSP00000437486.1:n.*312A>G
ENST00000539145.5:c.608A>G	ENSP00000444471.1:n.608A>G
ENST00000541159.5:c.1054A>G	ENSP00000438711.1:p.Lys352Glu
ENST00000542898.5:c.1780A>G	ENSP00000444615.1:p.Lys594Glu
ENST00000570511.5:c.1165-620A>G	ENSP00000458312.1:n.1165-620A>G
ENST00000572244.5:c.377A>G	ENSP00000461186.1:n.377A>G
ENST00000574583.5:c.532-620A>G	ENSP00000460269.1:n.532-620A>G
ENST00000576315.5:c.532-226A>G	ENSP00000460551.1:n.532-226A>G
ENST00000621655.1:c.1054A>G	ENSP00000481436.1:p.Lys352Glu
NM_000243.2:c.1687A>G , LRG_190t1:c.1687A>G	NP_000234.1:p.Lys563Glu
NM_001198536.1:c.1054A>G	NP_001185465.1:p.Lys352Glu
XM_017023236.2:c.1684A>G	XP_016878725.1:p.Lys562Glu
XR_001751903.1:n.1876A>G
NM_000243.3:c.1687A>G MANE Select	NP_000234.1:p.Lys563Glu
NM_001198536.2:c.1054A>G	NP_001185465.2:p.Lys352Glu