Canonical Allele Identifier: CA394459162

Gene: MEFV

Linked Data

• COSMIC: COSM5012963 ; COSM5012964
• MyVariant Identifiers: chr16:g.3294583T>G (hg19) ; chr16:g.3244583T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3244583T>G , CM000678.2:g.3244583T>G	GRCh38
NC_000016.9:g.3294583T>G , CM000678.1:g.3294583T>G	GRCh37
NC_000016.8:g.3234584T>G	NCBI36
NG_007871.1:g.17045A>C , LRG_190:g.17045A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.737A>C
ENST00000219596.6:c.1616A>C MANE Select	ENSP00000219596.1:p.Lys539Thr
ENST00000219596.5:c.1616A>C	ENSP00000219596.1:p.Lys539Thr
ENST00000339854.8:c.1076A>C	ENSP00000339639.4:p.Lys359Thr
ENST00000536379.5:c.983A>C	ENSP00000445079.1:p.Lys328Thr
ENST00000536980.5:c.983A>C	ENSP00000444178.1:p.Lys328Thr
ENST00000537682.5:c.1616A>C	ENSP00000438611.1:p.Lys539Thr
ENST00000538326.5:c.*241A>C	ENSP00000437486.1:n.*241A>C
ENST00000539145.5:c.537A>C	ENSP00000444471.1:n.537A>C
ENST00000541159.5:c.983A>C	ENSP00000438711.1:p.Lys328Thr
ENST00000542898.5:c.1709A>C	ENSP00000444615.1:p.Lys570Thr
ENST00000570511.5:c.1165-691A>C	ENSP00000458312.1:n.1165-691A>C
ENST00000572244.5:c.306A>C	ENSP00000461186.1:p.Ter102Tyr
ENST00000574583.5:c.532-691A>C	ENSP00000460269.1:n.532-691A>C
ENST00000576315.5:c.532-297A>C	ENSP00000460551.1:n.532-297A>C
ENST00000621655.1:c.983A>C	ENSP00000481436.1:p.Lys328Thr
NM_000243.2:c.1616A>C , LRG_190t1:c.1616A>C	NP_000234.1:p.Lys539Thr
NM_001198536.1:c.983A>C	NP_001185465.1:p.Lys328Thr
XM_017023236.2:c.1613A>C	XP_016878725.1:p.Lys538Thr
XR_001751903.1:n.1805A>C
NM_000243.3:c.1616A>C MANE Select	NP_000234.1:p.Lys539Thr
NM_001198536.2:c.983A>C	NP_001185465.2:p.Lys328Thr