Canonical Allele Identifier: CA276955246

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243592C>G , CM000678.2:g.3243592C>G	GRCh38
NC_000016.9:g.3293592C>G , CM000678.1:g.3293592C>G	GRCh37
NC_000016.8:g.3233593C>G	NCBI36
NG_007871.1:g.18036G>C , LRG_190:g.18036G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000243.3:c.1895G>C MANE Select	NP_000234.1:p.Gly632Ala
ENST00000219596.6:c.1895G>C MANE Select	ENSP00000219596.1:p.Gly632Ala
NM_000243.2:c.1895G>C , LRG_190t1:c.1895G>C	NP_000234.1:p.Gly632Ala
NM_001198536.1:c.*99G>C	NP_001185465.1:n.*99G>C
NM_001198536.2:c.*99G>C	NP_001185465.2:n.*99G>C
ENST00000219596.5:c.1895G>C	ENSP00000219596.1:p.Gly632Ala
ENST00000339854.8:c.1355G>C	ENSP00000339639.4:p.Gly452Ala
ENST00000536379.5:c.1262G>C	ENSP00000445079.1:p.Gly421Ala
ENST00000536980.5:c.*171G>C	ENSP00000444178.1:n.*171G>C
ENST00000537682.5:c.*171G>C	ENSP00000438611.1:n.*171G>C
ENST00000538326.5:c.*520G>C	ENSP00000437486.1:n.*520G>C
ENST00000539145.5:c.816G>C	ENSP00000444471.1:n.816G>C
ENST00000541159.5:c.1437G>C	ENSP00000438711.1:n.1437G>C
ENST00000542898.5:c.*171G>C	ENSP00000444615.1:n.*171G>C
ENST00000570511.5:c.1300G>C	ENSP00000458312.1:n.1300G>C
ENST00000572244.5:c.585G>C	ENSP00000461186.1:n.585G>C
ENST00000574583.5:c.667G>C	ENSP00000460269.1:n.667G>C
ENST00000576315.5:c.700G>C	ENSP00000460551.1:n.700G>C
ENST00000621655.1:c.1432G>C	ENSP00000481436.1:n.1432G>C
ENST00000697124.1:n.1016G>C
XM_017023236.2:c.1892G>C	XP_016878725.1:p.Gly631Ala