Canonical Allele Identifier: CA394484610

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243200C>G , CM000678.2:g.3243200C>G	GRCh38
NC_000016.9:g.3293200C>G , CM000678.1:g.3293200C>G	GRCh37
NC_000016.8:g.3233201C>G	NCBI36
NG_007871.1:g.18428G>C , LRG_190:g.18428G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000243.3:c.2287G>C MANE Select	NP_000234.1:p.Gly763Arg
ENST00000219596.6:c.2287G>C MANE Select	ENSP00000219596.1:p.Gly763Arg
NM_000243.2:c.2287G>C , LRG_190t1:c.2287G>C	NP_000234.1:p.Gly763Arg
NM_001198536.1:c.*491G>C	NP_001185465.1:n.*491G>C
NM_001198536.2:c.*491G>C	NP_001185465.2:n.*491G>C
ENST00000219596.5:c.2287G>C	ENSP00000219596.1:p.Gly763Arg
ENST00000339854.8:c.1747G>C	ENSP00000339639.4:p.Gly583Arg
ENST00000536379.5:c.1654G>C	ENSP00000445079.1:p.Gly552Arg
ENST00000536980.5:c.*563G>C	ENSP00000444178.1:n.*563G>C
ENST00000537682.5:c.*563G>C	ENSP00000438611.1:n.*563G>C
ENST00000538326.5:c.*912G>C	ENSP00000437486.1:n.*912G>C
ENST00000539145.5:c.1208G>C	ENSP00000444471.1:n.1208G>C
ENST00000541159.5:c.1829G>C	ENSP00000438711.1:n.1829G>C
ENST00000542898.5:c.*563G>C	ENSP00000444615.1:n.*563G>C
ENST00000570511.5:c.1692G>C	ENSP00000458312.1:n.1692G>C
ENST00000572244.5:c.977G>C	ENSP00000461186.1:n.977G>C
ENST00000574583.5:c.1059G>C	ENSP00000460269.1:n.1059G>C
ENST00000576315.5:c.1092G>C	ENSP00000460551.1:n.1092G>C
ENST00000621655.1:c.1824G>C	ENSP00000481436.1:n.1824G>C
ENST00000697124.1:n.1408G>C
XM_017023236.2:c.2284G>C	XP_016878725.1:p.Gly762Arg