Canonical Allele Identifier: CA493383713

Gene: MEFV

Linked Data

• MyVariant Identifiers: chr16:g.3293362G>A (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000697124.1:n.1246C>T
ENST00000219596.6:c.2125C>T MANE Select	ENSP00000219596.1:p.Leu709=
ENST00000219596.5:c.2125C>T	ENSP00000219596.1:p.Leu709=
ENST00000339854.8:c.1585C>T	ENSP00000339639.4:p.Leu529=
ENST00000536379.5:c.1492C>T	ENSP00000445079.1:p.Leu498=
ENST00000536980.5:c.*401C>T	ENSP00000444178.1:n.*401C>T
ENST00000537682.5:c.*401C>T	ENSP00000438611.1:n.*401C>T
ENST00000538326.5:c.*750C>T	ENSP00000437486.1:n.*750C>T
ENST00000539145.5:c.1046C>T	ENSP00000444471.1:n.1046C>T
ENST00000541159.5:c.1667C>T	ENSP00000438711.1:n.1667C>T
ENST00000542898.5:c.*401C>T	ENSP00000444615.1:n.*401C>T
ENST00000570511.5:c.1530C>T	ENSP00000458312.1:n.1530C>T
ENST00000572244.5:c.815C>T	ENSP00000461186.1:n.815C>T
ENST00000574583.5:c.897C>T	ENSP00000460269.1:n.897C>T
ENST00000576315.5:c.930C>T	ENSP00000460551.1:n.930C>T
ENST00000621655.1:c.1662C>T	ENSP00000481436.1:n.1662C>T
NM_000243.2:c.2125C>T , LRG_190t1:c.2125C>T	NP_000234.1:p.Leu709=
NM_001198536.1:c.*329C>T	NP_001185465.1:n.*329C>T
XM_017023236.2:c.2122C>T	XP_016878725.1:p.Leu708=
NM_000243.3:c.2125C>T MANE Select	NP_000234.1:p.Leu709=
NM_001198536.2:c.*329C>T	NP_001185465.2:n.*329C>T