Canonical Allele Identifier: CA394485782

Gene: MEFV

Linked Data

• dbSNP Id: rs1461537843
• gnomAD v2: 16-3293350-C-G
• gnomAD v3: 16-3243350-C-G
• gnomAD v4: 16-3243350-C-G
• MyVariant Identifiers: chr16:g.3293350C>G (hg19) ; chr16:g.3243350C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243350C>G , CM000678.2:g.3243350C>G	GRCh38
NC_000016.9:g.3293350C>G , CM000678.1:g.3293350C>G	GRCh37
NC_000016.8:g.3233351C>G	NCBI36
NG_007871.1:g.18278G>C , LRG_190:g.18278G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000697124.1:n.1258G>C
ENST00000219596.6:c.2137G>C MANE Select	ENSP00000219596.1:p.Glu713Gln
ENST00000219596.5:c.2137G>C	ENSP00000219596.1:p.Glu713Gln
ENST00000339854.8:c.1597G>C	ENSP00000339639.4:p.Glu533Gln
ENST00000536379.5:c.1504G>C	ENSP00000445079.1:p.Glu502Gln
ENST00000536980.5:c.*413G>C	ENSP00000444178.1:n.*413G>C
ENST00000537682.5:c.*413G>C	ENSP00000438611.1:n.*413G>C
ENST00000538326.5:c.*762G>C	ENSP00000437486.1:n.*762G>C
ENST00000539145.5:c.1058G>C	ENSP00000444471.1:n.1058G>C
ENST00000541159.5:c.1679G>C	ENSP00000438711.1:n.1679G>C
ENST00000542898.5:c.*413G>C	ENSP00000444615.1:n.*413G>C
ENST00000570511.5:c.1542G>C	ENSP00000458312.1:n.1542G>C
ENST00000572244.5:c.827G>C	ENSP00000461186.1:n.827G>C
ENST00000574583.5:c.909G>C	ENSP00000460269.1:n.909G>C
ENST00000576315.5:c.942G>C	ENSP00000460551.1:n.942G>C
ENST00000621655.1:c.1674G>C	ENSP00000481436.1:n.1674G>C
NM_000243.2:c.2137G>C , LRG_190t1:c.2137G>C	NP_000234.1:p.Glu713Gln
NM_001198536.1:c.*341G>C	NP_001185465.1:n.*341G>C
XM_017023236.2:c.2134G>C	XP_016878725.1:p.Glu712Gln
NM_000243.3:c.2137G>C MANE Select	NP_000234.1:p.Glu713Gln
NM_001198536.2:c.*341G>C	NP_001185465.2:n.*341G>C