Canonical Allele Identifier: CA394485857

Gene: MEFV

Linked Data

• MyVariant Identifiers: chr16:g.3293362G>C (hg19) ; chr16:g.3243362G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243362G>C , CM000678.2:g.3243362G>C	GRCh38
NC_000016.9:g.3293362G>C , CM000678.1:g.3293362G>C	GRCh37
NC_000016.8:g.3233363G>C	NCBI36
NG_007871.1:g.18266C>G , LRG_190:g.18266C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1246C>G
ENST00000219596.6:c.2125C>G MANE Select	ENSP00000219596.1:p.Leu709Val
ENST00000219596.5:c.2125C>G	ENSP00000219596.1:p.Leu709Val
ENST00000339854.8:c.1585C>G	ENSP00000339639.4:p.Leu529Val
ENST00000536379.5:c.1492C>G	ENSP00000445079.1:p.Leu498Val
ENST00000536980.5:c.*401C>G	ENSP00000444178.1:n.*401C>G
ENST00000537682.5:c.*401C>G	ENSP00000438611.1:n.*401C>G
ENST00000538326.5:c.*750C>G	ENSP00000437486.1:n.*750C>G
ENST00000539145.5:c.1046C>G	ENSP00000444471.1:n.1046C>G
ENST00000541159.5:c.1667C>G	ENSP00000438711.1:n.1667C>G
ENST00000542898.5:c.*401C>G	ENSP00000444615.1:n.*401C>G
ENST00000570511.5:c.1530C>G	ENSP00000458312.1:n.1530C>G
ENST00000572244.5:c.815C>G	ENSP00000461186.1:n.815C>G
ENST00000574583.5:c.897C>G	ENSP00000460269.1:n.897C>G
ENST00000576315.5:c.930C>G	ENSP00000460551.1:n.930C>G
ENST00000621655.1:c.1662C>G	ENSP00000481436.1:n.1662C>G
NM_000243.2:c.2125C>G , LRG_190t1:c.2125C>G	NP_000234.1:p.Leu709Val
NM_001198536.1:c.*329C>G	NP_001185465.1:n.*329C>G
XM_017023236.2:c.2122C>G	XP_016878725.1:p.Leu708Val
NM_000243.3:c.2125C>G MANE Select	NP_000234.1:p.Leu709Val
NM_001198536.2:c.*329C>G	NP_001185465.2:n.*329C>G