Canonical Allele Identifier: CA394486254

Gene: MEFV

Linked Data

• MyVariant Identifiers: chr16:g.3293418A>G (hg19) ; chr16:g.3243418A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243418A>G , CM000678.2:g.3243418A>G	GRCh38
NC_000016.9:g.3293418A>G , CM000678.1:g.3293418A>G	GRCh37
NC_000016.8:g.3233419A>G	NCBI36
NG_007871.1:g.18210T>C , LRG_190:g.18210T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000697124.1:n.1190T>C
ENST00000219596.6:c.2069T>C MANE Select	ENSP00000219596.1:p.Val690Ala
ENST00000219596.5:c.2069T>C	ENSP00000219596.1:p.Val690Ala
ENST00000339854.8:c.1529T>C	ENSP00000339639.4:p.Val510Ala
ENST00000536379.5:c.1436T>C	ENSP00000445079.1:p.Val479Ala
ENST00000536980.5:c.*345T>C	ENSP00000444178.1:n.*345T>C
ENST00000537682.5:c.*345T>C	ENSP00000438611.1:n.*345T>C
ENST00000538326.5:c.*694T>C	ENSP00000437486.1:n.*694T>C
ENST00000539145.5:c.990T>C	ENSP00000444471.1:n.990T>C
ENST00000541159.5:c.1611T>C	ENSP00000438711.1:n.1611T>C
ENST00000542898.5:c.*345T>C	ENSP00000444615.1:n.*345T>C
ENST00000570511.5:c.1474T>C	ENSP00000458312.1:n.1474T>C
ENST00000572244.5:c.759T>C	ENSP00000461186.1:n.759T>C
ENST00000574583.5:c.841T>C	ENSP00000460269.1:n.841T>C
ENST00000576315.5:c.874T>C	ENSP00000460551.1:n.874T>C
ENST00000621655.1:c.1606T>C	ENSP00000481436.1:n.1606T>C
NM_000243.2:c.2069T>C , LRG_190t1:c.2069T>C	NP_000234.1:p.Val690Ala
NM_001198536.1:c.*273T>C	NP_001185465.1:n.*273T>C
XM_017023236.2:c.2066T>C	XP_016878725.1:p.Val689Ala
NM_000243.3:c.2069T>C MANE Select	NP_000234.1:p.Val690Ala
NM_001198536.2:c.*273T>C	NP_001185465.2:n.*273T>C