Canonical Allele Identifier: CA7859880

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243422A>G , CM000678.2:g.3243422A>G	GRCh38
NC_000016.9:g.3293422A>G , CM000678.1:g.3293422A>G	GRCh37
NC_000016.8:g.3233423A>G	NCBI36
NG_007871.1:g.18206T>C , LRG_190:g.18206T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000243.3:c.2065T>C MANE Select	NP_000234.1:p.Trp689Arg
ENST00000219596.6:c.2065T>C MANE Select	ENSP00000219596.1:p.Trp689Arg
NM_000243.2:c.2065T>C , LRG_190t1:c.2065T>C	NP_000234.1:p.Trp689Arg
NM_001198536.1:c.*269T>C	NP_001185465.1:n.*269T>C
NM_001198536.2:c.*269T>C	NP_001185465.2:n.*269T>C
ENST00000219596.5:c.2065T>C	ENSP00000219596.1:p.Trp689Arg
ENST00000339854.8:c.1525T>C	ENSP00000339639.4:p.Trp509Arg
ENST00000536379.5:c.1432T>C	ENSP00000445079.1:p.Trp478Arg
ENST00000536980.5:c.*341T>C	ENSP00000444178.1:n.*341T>C
ENST00000537682.5:c.*341T>C	ENSP00000438611.1:n.*341T>C
ENST00000538326.5:c.*690T>C	ENSP00000437486.1:n.*690T>C
ENST00000539145.5:c.986T>C	ENSP00000444471.1:n.986T>C
ENST00000541159.5:c.1607T>C	ENSP00000438711.1:n.1607T>C
ENST00000542898.5:c.*341T>C	ENSP00000444615.1:n.*341T>C
ENST00000570511.5:c.1470T>C	ENSP00000458312.1:n.1470T>C
ENST00000572244.5:c.755T>C	ENSP00000461186.1:n.755T>C
ENST00000574583.5:c.837T>C	ENSP00000460269.1:n.837T>C
ENST00000576315.5:c.870T>C	ENSP00000460551.1:n.870T>C
ENST00000621655.1:c.1602T>C	ENSP00000481436.1:n.1602T>C
ENST00000697124.1:n.1186T>C
XM_017023236.2:c.2062T>C	XP_016878725.1:p.Trp688Arg