Canonical Allele Identifier: CA394486517

Gene: MEFV

Linked Data

• MyVariant Identifiers: chr16:g.3293445G>C (hg19) ; chr16:g.3243445G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243445G>C , CM000678.2:g.3243445G>C	GRCh38
NC_000016.9:g.3293445G>C , CM000678.1:g.3293445G>C	GRCh37
NC_000016.8:g.3233446G>C	NCBI36
NG_007871.1:g.18183C>G , LRG_190:g.18183C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1163C>G
ENST00000219596.6:c.2042C>G MANE Select	ENSP00000219596.1:p.Thr681Ser
ENST00000219596.5:c.2042C>G	ENSP00000219596.1:p.Thr681Ser
ENST00000339854.8:c.1502C>G	ENSP00000339639.4:p.Thr501Ser
ENST00000536379.5:c.1409C>G	ENSP00000445079.1:p.Thr470Ser
ENST00000536980.5:c.*318C>G	ENSP00000444178.1:n.*318C>G
ENST00000537682.5:c.*318C>G	ENSP00000438611.1:n.*318C>G
ENST00000538326.5:c.*667C>G	ENSP00000437486.1:n.*667C>G
ENST00000539145.5:c.963C>G	ENSP00000444471.1:n.963C>G
ENST00000541159.5:c.1584C>G	ENSP00000438711.1:n.1584C>G
ENST00000542898.5:c.*318C>G	ENSP00000444615.1:n.*318C>G
ENST00000570511.5:c.1447C>G	ENSP00000458312.1:n.1447C>G
ENST00000572244.5:c.732C>G	ENSP00000461186.1:n.732C>G
ENST00000574583.5:c.814C>G	ENSP00000460269.1:n.814C>G
ENST00000576315.5:c.847C>G	ENSP00000460551.1:n.847C>G
ENST00000621655.1:c.1579C>G	ENSP00000481436.1:n.1579C>G
NM_000243.2:c.2042C>G , LRG_190t1:c.2042C>G	NP_000234.1:p.Thr681Ser
NM_001198536.1:c.*246C>G	NP_001185465.1:n.*246C>G
XM_017023236.2:c.2039C>G	XP_016878725.1:p.Thr680Ser
NM_000243.3:c.2042C>G MANE Select	NP_000234.1:p.Thr681Ser
NM_001198536.2:c.*246C>G	NP_001185465.2:n.*246C>G