Canonical Allele Identifier: CA394463128

Gene: MEFV

Linked Data

• MyVariant Identifiers: chr16:g.3297031T>A (hg19) ; chr16:g.3247031T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3247031T>A , CM000678.2:g.3247031T>A	GRCh38
NC_000016.9:g.3297031T>A , CM000678.1:g.3297031T>A	GRCh37
NC_000016.8:g.3237032T>A	NCBI36
NG_007871.1:g.14597A>T , LRG_190:g.14597A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219596.6:c.1572A>T MANE Select	ENSP00000219596.1:p.Glu524Asp
ENST00000219596.5:c.1572A>T	ENSP00000219596.1:p.Glu524Asp
ENST00000339854.8:c.1032A>T	ENSP00000339639.4:p.Glu344Asp
ENST00000536379.5:c.939A>T	ENSP00000445079.1:p.Glu313Asp
ENST00000536980.5:c.939A>T	ENSP00000444178.1:p.Glu313Asp
ENST00000537682.5:c.1572A>T	ENSP00000438611.1:p.Glu524Asp
ENST00000538326.5:c.*197A>T	ENSP00000437486.1:n.*197A>T
ENST00000539145.5:c.493A>T	ENSP00000444471.1:n.493A>T
ENST00000539154.1:n.937A>T
ENST00000541159.5:c.939A>T	ENSP00000438711.1:p.Glu313Asp
ENST00000542898.5:c.1665A>T	ENSP00000444615.1:p.Glu555Asp
ENST00000570511.5:c.1126A>T	ENSP00000458312.1:n.1126A>T
ENST00000572244.5:c.278-484A>T	ENSP00000461186.1:n.278-484A>T
ENST00000574583.5:c.493A>T	ENSP00000460269.1:n.493A>T
ENST00000576315.5:c.493A>T	ENSP00000460551.1:n.493A>T
ENST00000621655.1:c.939A>T	ENSP00000481436.1:p.Glu313Asp
NM_000243.2:c.1572A>T , LRG_190t1:c.1572A>T	NP_000234.1:p.Glu524Asp
NM_001198536.1:c.939A>T	NP_001185465.1:p.Glu313Asp
XM_017023236.2:c.1569A>T	XP_016878725.1:p.Glu523Asp
XR_001751903.1:n.1761A>T
NM_000243.3:c.1572A>T MANE Select	NP_000234.1:p.Glu524Asp
NM_001198536.2:c.939A>T	NP_001185465.2:p.Glu313Asp