Canonical Allele Identifier: CA394488831

Gene: MEFV

Linked Data

• COSMIC: COSM4060561 ; COSM4060562
• MyVariant Identifiers: chr16:g.3293871T>C (hg19) ; chr16:g.3243871T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243871T>C , CM000678.2:g.3243871T>C	GRCh38
NC_000016.9:g.3293871T>C , CM000678.1:g.3293871T>C	GRCh37
NC_000016.8:g.3233872T>C	NCBI36
NG_007871.1:g.17757A>G , LRG_190:g.17757A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.902A>G
ENST00000219596.6:c.1781A>G MANE Select	ENSP00000219596.1:p.Gln594Arg
ENST00000219596.5:c.1781A>G	ENSP00000219596.1:p.Gln594Arg
ENST00000339854.8:c.1241A>G	ENSP00000339639.4:p.Gln414Arg
ENST00000536379.5:c.1148A>G	ENSP00000445079.1:p.Gln383Arg
ENST00000536980.5:c.*57A>G	ENSP00000444178.1:n.*57A>G
ENST00000537682.5:c.*57A>G	ENSP00000438611.1:n.*57A>G
ENST00000538326.5:c.*406A>G	ENSP00000437486.1:n.*406A>G
ENST00000539145.5:c.702A>G	ENSP00000444471.1:n.702A>G
ENST00000541159.5:c.1323A>G	ENSP00000438711.1:p.Ser441=
ENST00000542898.5:c.*57A>G	ENSP00000444615.1:n.*57A>G
ENST00000570511.5:c.1186A>G	ENSP00000458312.1:n.1186A>G
ENST00000572244.5:c.471A>G	ENSP00000461186.1:n.471A>G
ENST00000574583.5:c.553A>G	ENSP00000460269.1:n.553A>G
ENST00000576315.5:c.586A>G	ENSP00000460551.1:n.586A>G
ENST00000621655.1:c.1318A>G	ENSP00000481436.1:n.1318A>G
NM_000243.2:c.1781A>G , LRG_190t1:c.1781A>G	NP_000234.1:p.Gln594Arg
NM_001198536.1:c.1323A>G	NP_001185465.1:p.Ser441=
XM_017023236.2:c.1778A>G	XP_016878725.1:p.Gln593Arg
XR_001751903.1:n.2088A>G
NM_000243.3:c.1781A>G MANE Select	NP_000234.1:p.Gln594Arg
NM_001198536.2:c.1323A>G	NP_001185465.2:p.Ser441=