Canonical Allele Identifier: CA493383628

Gene: MEFV

Linked Data

• MyVariant Identifiers: chr16:g.3293309A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243309A>C , CM000678.2:g.3243309A>C	GRCh38
NC_000016.9:g.3293309A>C , CM000678.1:g.3293309A>C	GRCh37
NC_000016.8:g.3233310A>C	NCBI36
NG_007871.1:g.18319T>G , LRG_190:g.18319T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000697124.1:n.1299T>G
ENST00000219596.6:c.2178T>G MANE Select	ENSP00000219596.1:p.Val726=
ENST00000219596.5:c.2178T>G	ENSP00000219596.1:p.Val726=
ENST00000339854.8:c.1638T>G	ENSP00000339639.4:p.Val546=
ENST00000536379.5:c.1545T>G	ENSP00000445079.1:p.Val515=
ENST00000536980.5:c.*454T>G	ENSP00000444178.1:n.*454T>G
ENST00000537682.5:c.*454T>G	ENSP00000438611.1:n.*454T>G
ENST00000538326.5:c.*803T>G	ENSP00000437486.1:n.*803T>G
ENST00000539145.5:c.1099T>G	ENSP00000444471.1:n.1099T>G
ENST00000541159.5:c.1720T>G	ENSP00000438711.1:n.1720T>G
ENST00000542898.5:c.*454T>G	ENSP00000444615.1:n.*454T>G
ENST00000570511.5:c.1583T>G	ENSP00000458312.1:n.1583T>G
ENST00000572244.5:c.868T>G	ENSP00000461186.1:n.868T>G
ENST00000574583.5:c.950T>G	ENSP00000460269.1:n.950T>G
ENST00000576315.5:c.983T>G	ENSP00000460551.1:n.983T>G
ENST00000621655.1:c.1715T>G	ENSP00000481436.1:n.1715T>G
NM_000243.2:c.2178T>G , LRG_190t1:c.2178T>G	NP_000234.1:p.Val726=
NM_001198536.1:c.*382T>G	NP_001185465.1:n.*382T>G
XM_017023236.2:c.2175T>G	XP_016878725.1:p.Val725=
NM_000243.3:c.2178T>G MANE Select	NP_000234.1:p.Val726=
NM_001198536.2:c.*382T>G	NP_001185465.2:n.*382T>G