Canonical Allele Identifier: CA394486441

Gene: MEFV

Linked Data

• MyVariant Identifiers: chr16:g.3293434C>G (hg19) ; chr16:g.3243434C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243434C>G , CM000678.2:g.3243434C>G	GRCh38
NC_000016.9:g.3293434C>G , CM000678.1:g.3293434C>G	GRCh37
NC_000016.8:g.3233435C>G	NCBI36
NG_007871.1:g.18194G>C , LRG_190:g.18194G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1174G>C
ENST00000219596.6:c.2053G>C MANE Select	ENSP00000219596.1:p.Glu685Gln
ENST00000219596.5:c.2053G>C	ENSP00000219596.1:p.Glu685Gln
ENST00000339854.8:c.1513G>C	ENSP00000339639.4:p.Glu505Gln
ENST00000536379.5:c.1420G>C	ENSP00000445079.1:p.Glu474Gln
ENST00000536980.5:c.*329G>C	ENSP00000444178.1:n.*329G>C
ENST00000537682.5:c.*329G>C	ENSP00000438611.1:n.*329G>C
ENST00000538326.5:c.*678G>C	ENSP00000437486.1:n.*678G>C
ENST00000539145.5:c.974G>C	ENSP00000444471.1:n.974G>C
ENST00000541159.5:c.1595G>C	ENSP00000438711.1:n.1595G>C
ENST00000542898.5:c.*329G>C	ENSP00000444615.1:n.*329G>C
ENST00000570511.5:c.1458G>C	ENSP00000458312.1:n.1458G>C
ENST00000572244.5:c.743G>C	ENSP00000461186.1:n.743G>C
ENST00000574583.5:c.825G>C	ENSP00000460269.1:n.825G>C
ENST00000576315.5:c.858G>C	ENSP00000460551.1:n.858G>C
ENST00000621655.1:c.1590G>C	ENSP00000481436.1:n.1590G>C
NM_000243.2:c.2053G>C , LRG_190t1:c.2053G>C	NP_000234.1:p.Glu685Gln
NM_001198536.1:c.*257G>C	NP_001185465.1:n.*257G>C
XM_017023236.2:c.2050G>C	XP_016878725.1:p.Glu684Gln
NM_000243.3:c.2053G>C MANE Select	NP_000234.1:p.Glu685Gln
NM_001198536.2:c.*257G>C	NP_001185465.2:n.*257G>C