Canonical Allele Identifier: CA493383651

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3247067C>T , CM000678.2:g.3247067C>T	GRCh38
NC_000016.9:g.3297067C>T , CM000678.1:g.3297067C>T	GRCh37
NC_000016.8:g.3237068C>T	NCBI36
NG_007871.1:g.14561G>A , LRG_190:g.14561G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219596.6:c.1536G>A MANE Select	ENSP00000219596.1:p.Leu512=
ENST00000219596.5:c.1536G>A	ENSP00000219596.1:p.Leu512=
ENST00000339854.8:c.996G>A	ENSP00000339639.4:p.Leu332=
ENST00000536379.5:c.903G>A	ENSP00000445079.1:p.Leu301=
ENST00000536980.5:c.903G>A	ENSP00000444178.1:p.Leu301=
ENST00000537682.5:c.1536G>A	ENSP00000438611.1:p.Leu512=
ENST00000538326.5:c.*161G>A	ENSP00000437486.1:n.*161G>A
ENST00000539145.5:c.457G>A	ENSP00000444471.1:n.457G>A
ENST00000539154.1:n.901G>A
ENST00000541159.5:c.903G>A	ENSP00000438711.1:p.Leu301=
ENST00000542898.5:c.1629G>A	ENSP00000444615.1:p.Leu543=
ENST00000570511.5:c.1090G>A	ENSP00000458312.1:n.1090G>A
ENST00000572244.5:c.278-520G>A	ENSP00000461186.1:n.278-520G>A
ENST00000574583.5:c.457G>A	ENSP00000460269.1:n.457G>A
ENST00000576315.5:c.457G>A	ENSP00000460551.1:n.457G>A
ENST00000621655.1:c.903G>A	ENSP00000481436.1:p.Leu301=
NM_000243.2:c.1536G>A , LRG_190t1:c.1536G>A	NP_000234.1:p.Leu512=
NM_001198536.1:c.903G>A	NP_001185465.1:p.Leu301=
XM_017023236.2:c.1533G>A	XP_016878725.1:p.Leu511=
XR_001751903.1:n.1725G>A
NM_000243.3:c.1536G>A MANE Select	NP_000234.1:p.Leu512=
NM_001198536.2:c.903G>A	NP_001185465.2:p.Leu301=