Canonical Allele Identifier: CA394486275

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243419C>G , CM000678.2:g.3243419C>G	GRCh38
NC_000016.9:g.3293419C>G , CM000678.1:g.3293419C>G	GRCh37
NC_000016.8:g.3233420C>G	NCBI36
NG_007871.1:g.18209G>C , LRG_190:g.18209G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000243.3:c.2068G>C MANE Select	NP_000234.1:p.Val690Leu
ENST00000219596.6:c.2068G>C MANE Select	ENSP00000219596.1:p.Val690Leu
NM_000243.2:c.2068G>C , LRG_190t1:c.2068G>C	NP_000234.1:p.Val690Leu
NM_001198536.1:c.*272G>C	NP_001185465.1:n.*272G>C
NM_001198536.2:c.*272G>C	NP_001185465.2:n.*272G>C
ENST00000219596.5:c.2068G>C	ENSP00000219596.1:p.Val690Leu
ENST00000339854.8:c.1528G>C	ENSP00000339639.4:p.Val510Leu
ENST00000536379.5:c.1435G>C	ENSP00000445079.1:p.Val479Leu
ENST00000536980.5:c.*344G>C	ENSP00000444178.1:n.*344G>C
ENST00000537682.5:c.*344G>C	ENSP00000438611.1:n.*344G>C
ENST00000538326.5:c.*693G>C	ENSP00000437486.1:n.*693G>C
ENST00000539145.5:c.989G>C	ENSP00000444471.1:n.989G>C
ENST00000541159.5:c.1610G>C	ENSP00000438711.1:n.1610G>C
ENST00000542898.5:c.*344G>C	ENSP00000444615.1:n.*344G>C
ENST00000570511.5:c.1473G>C	ENSP00000458312.1:n.1473G>C
ENST00000572244.5:c.758G>C	ENSP00000461186.1:n.758G>C
ENST00000574583.5:c.840G>C	ENSP00000460269.1:n.840G>C
ENST00000576315.5:c.873G>C	ENSP00000460551.1:n.873G>C
ENST00000621655.1:c.1605G>C	ENSP00000481436.1:n.1605G>C
ENST00000697124.1:n.1189G>C
XM_017023236.2:c.2065G>C	XP_016878725.1:p.Val689Leu