Canonical Allele Identifier: CA394485154

Gene: MEFV

Linked Data

• COSMIC: COSM3509363
• MyVariant Identifiers: chr16:g.3293268A>C (hg19) ; chr16:g.3243268A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243268A>C , CM000678.2:g.3243268A>C	GRCh38
NC_000016.9:g.3293268A>C , CM000678.1:g.3293268A>C	GRCh37
NC_000016.8:g.3233269A>C	NCBI36
NG_007871.1:g.18360T>G , LRG_190:g.18360T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1340T>G
ENST00000219596.6:c.2219T>G MANE Select	ENSP00000219596.1:p.Ile740Ser
ENST00000219596.5:c.2219T>G	ENSP00000219596.1:p.Ile740Ser
ENST00000339854.8:c.1679T>G	ENSP00000339639.4:p.Ile560Ser
ENST00000536379.5:c.1586T>G	ENSP00000445079.1:p.Ile529Ser
ENST00000536980.5:c.*495T>G	ENSP00000444178.1:n.*495T>G
ENST00000537682.5:c.*495T>G	ENSP00000438611.1:n.*495T>G
ENST00000538326.5:c.*844T>G	ENSP00000437486.1:n.*844T>G
ENST00000539145.5:c.1140T>G	ENSP00000444471.1:n.1140T>G
ENST00000541159.5:c.1761T>G	ENSP00000438711.1:n.1761T>G
ENST00000542898.5:c.*495T>G	ENSP00000444615.1:n.*495T>G
ENST00000570511.5:c.1624T>G	ENSP00000458312.1:n.1624T>G
ENST00000572244.5:c.909T>G	ENSP00000461186.1:n.909T>G
ENST00000574583.5:c.991T>G	ENSP00000460269.1:n.991T>G
ENST00000576315.5:c.1024T>G	ENSP00000460551.1:n.1024T>G
ENST00000621655.1:c.1756T>G	ENSP00000481436.1:n.1756T>G
NM_000243.2:c.2219T>G , LRG_190t1:c.2219T>G	NP_000234.1:p.Ile740Ser
NM_001198536.1:c.*423T>G	NP_001185465.1:n.*423T>G
XM_017023236.2:c.2216T>G	XP_016878725.1:p.Ile739Ser
NM_000243.3:c.2219T>G MANE Select	NP_000234.1:p.Ile740Ser
NM_001198536.2:c.*423T>G	NP_001185465.2:n.*423T>G