Canonical Allele Identifier: CA493383711

Gene: MEFV

Linked Data

• MyVariant Identifiers: chr16:g.3293360C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243360C>G , CM000678.2:g.3243360C>G	GRCh38
NC_000016.9:g.3293360C>G , CM000678.1:g.3293360C>G	GRCh37
NC_000016.8:g.3233361C>G	NCBI36
NG_007871.1:g.18268G>C , LRG_190:g.18268G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000697124.1:n.1248G>C
ENST00000219596.6:c.2127G>C MANE Select	ENSP00000219596.1:p.Leu709=
ENST00000219596.5:c.2127G>C	ENSP00000219596.1:p.Leu709=
ENST00000339854.8:c.1587G>C	ENSP00000339639.4:p.Leu529=
ENST00000536379.5:c.1494G>C	ENSP00000445079.1:p.Leu498=
ENST00000536980.5:c.*403G>C	ENSP00000444178.1:n.*403G>C
ENST00000537682.5:c.*403G>C	ENSP00000438611.1:n.*403G>C
ENST00000538326.5:c.*752G>C	ENSP00000437486.1:n.*752G>C
ENST00000539145.5:c.1048G>C	ENSP00000444471.1:n.1048G>C
ENST00000541159.5:c.1669G>C	ENSP00000438711.1:n.1669G>C
ENST00000542898.5:c.*403G>C	ENSP00000444615.1:n.*403G>C
ENST00000570511.5:c.1532G>C	ENSP00000458312.1:n.1532G>C
ENST00000572244.5:c.817G>C	ENSP00000461186.1:n.817G>C
ENST00000574583.5:c.899G>C	ENSP00000460269.1:n.899G>C
ENST00000576315.5:c.932G>C	ENSP00000460551.1:n.932G>C
ENST00000621655.1:c.1664G>C	ENSP00000481436.1:n.1664G>C
NM_000243.2:c.2127G>C , LRG_190t1:c.2127G>C	NP_000234.1:p.Leu709=
NM_001198536.1:c.*331G>C	NP_001185465.1:n.*331G>C
XM_017023236.2:c.2124G>C	XP_016878725.1:p.Leu708=
NM_000243.3:c.2127G>C MANE Select	NP_000234.1:p.Leu709=
NM_001198536.2:c.*331G>C	NP_001185465.2:n.*331G>C