Canonical Allele Identifier: CA394486393

Gene: MEFV

Linked Data

• MyVariant Identifiers: chr16:g.3293432C>G (hg19) ; chr16:g.3243432C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243432C>G , CM000678.2:g.3243432C>G	GRCh38
NC_000016.9:g.3293432C>G , CM000678.1:g.3293432C>G	GRCh37
NC_000016.8:g.3233433C>G	NCBI36
NG_007871.1:g.18196G>C , LRG_190:g.18196G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1176G>C
ENST00000219596.6:c.2055G>C MANE Select	ENSP00000219596.1:p.Glu685Asp
ENST00000219596.5:c.2055G>C	ENSP00000219596.1:p.Glu685Asp
ENST00000339854.8:c.1515G>C	ENSP00000339639.4:p.Glu505Asp
ENST00000536379.5:c.1422G>C	ENSP00000445079.1:p.Glu474Asp
ENST00000536980.5:c.*331G>C	ENSP00000444178.1:n.*331G>C
ENST00000537682.5:c.*331G>C	ENSP00000438611.1:n.*331G>C
ENST00000538326.5:c.*680G>C	ENSP00000437486.1:n.*680G>C
ENST00000539145.5:c.976G>C	ENSP00000444471.1:n.976G>C
ENST00000541159.5:c.1597G>C	ENSP00000438711.1:n.1597G>C
ENST00000542898.5:c.*331G>C	ENSP00000444615.1:n.*331G>C
ENST00000570511.5:c.1460G>C	ENSP00000458312.1:n.1460G>C
ENST00000572244.5:c.745G>C	ENSP00000461186.1:n.745G>C
ENST00000574583.5:c.827G>C	ENSP00000460269.1:n.827G>C
ENST00000576315.5:c.860G>C	ENSP00000460551.1:n.860G>C
ENST00000621655.1:c.1592G>C	ENSP00000481436.1:n.1592G>C
NM_000243.2:c.2055G>C , LRG_190t1:c.2055G>C	NP_000234.1:p.Glu685Asp
NM_001198536.1:c.*259G>C	NP_001185465.1:n.*259G>C
XM_017023236.2:c.2052G>C	XP_016878725.1:p.Glu684Asp
NM_000243.3:c.2055G>C MANE Select	NP_000234.1:p.Glu685Asp
NM_001198536.2:c.*259G>C	NP_001185465.2:n.*259G>C