Canonical Allele Identifier: CA394488958

Gene: MEFV

Linked Data

• MyVariant Identifiers: chr16:g.3293886T>G (hg19) ; chr16:g.3243886T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243886T>G , CM000678.2:g.3243886T>G	GRCh38
NC_000016.9:g.3293886T>G , CM000678.1:g.3293886T>G	GRCh37
NC_000016.8:g.3233887T>G	NCBI36
NG_007871.1:g.17742A>C , LRG_190:g.17742A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.887A>C
ENST00000219596.6:c.1766A>C MANE Select	ENSP00000219596.1:p.Glu589Ala
ENST00000219596.5:c.1766A>C	ENSP00000219596.1:p.Glu589Ala
ENST00000339854.8:c.1226A>C	ENSP00000339639.4:p.Glu409Ala
ENST00000536379.5:c.1133A>C	ENSP00000445079.1:p.Glu378Ala
ENST00000536980.5:c.*42A>C	ENSP00000444178.1:n.*42A>C
ENST00000537682.5:c.*42A>C	ENSP00000438611.1:n.*42A>C
ENST00000538326.5:c.*391A>C	ENSP00000437486.1:n.*391A>C
ENST00000539145.5:c.687A>C	ENSP00000444471.1:n.687A>C
ENST00000541159.5:c.1308A>C	ENSP00000438711.1:p.Gly436=
ENST00000542898.5:c.*42A>C	ENSP00000444615.1:n.*42A>C
ENST00000570511.5:c.1171A>C	ENSP00000458312.1:n.1171A>C
ENST00000572244.5:c.456A>C	ENSP00000461186.1:n.456A>C
ENST00000574583.5:c.538A>C	ENSP00000460269.1:n.538A>C
ENST00000576315.5:c.571A>C	ENSP00000460551.1:n.571A>C
ENST00000621655.1:c.1303A>C	ENSP00000481436.1:n.1303A>C
NM_000243.2:c.1766A>C , LRG_190t1:c.1766A>C	NP_000234.1:p.Glu589Ala
NM_001198536.1:c.1308A>C	NP_001185465.1:p.Arg436Ser
XM_017023236.2:c.1763A>C	XP_016878725.1:p.Glu588Ala
XR_001751903.1:n.2073A>C
NM_000243.3:c.1766A>C MANE Select	NP_000234.1:p.Glu589Ala
NM_001198536.2:c.1308A>C	NP_001185465.2:p.Gly436=