Canonical Allele Identifier: CA394458043

Gene: MEFV

Linked Data

• MyVariant Identifiers: chr16:g.3294495C>G (hg19) ; chr16:g.3244495C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3244495C>G , CM000678.2:g.3244495C>G	GRCh38
NC_000016.9:g.3294495C>G , CM000678.1:g.3294495C>G	GRCh37
NC_000016.8:g.3234496C>G	NCBI36
NG_007871.1:g.17133G>C , LRG_190:g.17133G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.825G>C
ENST00000219596.6:c.1704G>C MANE Select	ENSP00000219596.1:p.Glu568Asp
ENST00000219596.5:c.1704G>C	ENSP00000219596.1:p.Glu568Asp
ENST00000339854.8:c.1164G>C	ENSP00000339639.4:p.Glu388Asp
ENST00000536379.5:c.1071G>C	ENSP00000445079.1:p.Glu357Asp
ENST00000536980.5:c.1071G>C	ENSP00000444178.1:p.Glu357Asp
ENST00000537682.5:c.1704G>C	ENSP00000438611.1:p.Glu568Asp
ENST00000538326.5:c.*329G>C	ENSP00000437486.1:n.*329G>C
ENST00000539145.5:c.625G>C	ENSP00000444471.1:n.625G>C
ENST00000541159.5:c.1071G>C	ENSP00000438711.1:p.Glu357Asp
ENST00000542898.5:c.1797G>C	ENSP00000444615.1:p.Glu599Asp
ENST00000570511.5:c.1165-603G>C	ENSP00000458312.1:n.1165-603G>C
ENST00000572244.5:c.394G>C	ENSP00000461186.1:n.394G>C
ENST00000574583.5:c.532-603G>C	ENSP00000460269.1:n.532-603G>C
ENST00000576315.5:c.532-209G>C	ENSP00000460551.1:n.532-209G>C
ENST00000621655.1:c.1071G>C	ENSP00000481436.1:p.Glu357Asp
NM_000243.2:c.1704G>C , LRG_190t1:c.1704G>C	NP_000234.1:p.Glu568Asp
NM_001198536.1:c.1071G>C	NP_001185465.1:p.Glu357Asp
XM_017023236.2:c.1701G>C	XP_016878725.1:p.Glu567Asp
XR_001751903.1:n.1893G>C
NM_000243.3:c.1704G>C MANE Select	NP_000234.1:p.Glu568Asp
NM_001198536.2:c.1071G>C	NP_001185465.2:p.Glu357Asp