Canonical Allele Identifier: CA7860002

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3244242C>T , CM000678.2:g.3244242C>T	GRCh38
NC_000016.9:g.3294242C>T , CM000678.1:g.3294242C>T	GRCh37
NC_000016.8:g.3234243C>T	NCBI36
NG_007871.1:g.17386G>A , LRG_190:g.17386G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000243.3:c.1759+12G>A MANE Select	NP_000234.1:n.1759+12G>A
ENST00000219596.6:c.1759+12G>A MANE Select	ENSP00000219596.1:n.1759+12G>A
NM_000243.2:c.1759+12G>A , LRG_190t1:c.1759+12G>A	NP_000234.1:n.1759+12G>A
NM_001198536.1:c.1126+12G>A	NP_001185465.1:n.1126+12G>A
NM_001198536.2:c.1126+12G>A	NP_001185465.2:n.1126+12G>A
ENST00000219596.5:c.1759+12G>A	ENSP00000219596.1:n.1759+12G>A
ENST00000339854.8:c.1219+12G>A	ENSP00000339639.4:n.1219+12G>A
ENST00000536379.5:c.1126+12G>A	ENSP00000445079.1:n.1126+12G>A
ENST00000536980.5:c.1138G>A	ENSP00000444178.1:p.Gly380Ser
ENST00000537682.5:c.1771G>A	ENSP00000438611.1:p.Gly591Ser
ENST00000538326.5:c.*384+12G>A	ENSP00000437486.1:n.*384+12G>A
ENST00000539145.5:c.680+12G>A	ENSP00000444471.1:n.680+12G>A
ENST00000541159.5:c.1126+12G>A	ENSP00000438711.1:n.1126+12G>A
ENST00000542898.5:c.1864G>A	ENSP00000444615.1:p.Gly622Ser
ENST00000570511.5:c.1165-350G>A	ENSP00000458312.1:n.1165-350G>A
ENST00000572244.5:c.449+12G>A	ENSP00000461186.1:n.449+12G>A
ENST00000574583.5:c.532-350G>A	ENSP00000460269.1:n.532-350G>A
ENST00000576315.5:c.564+12G>A	ENSP00000460551.1:n.564+12G>A
ENST00000621655.1:c.1126+12G>A	ENSP00000481436.1:n.1126+12G>A
ENST00000697124.1:n.880+12G>A
XM_017023236.2:c.1756+12G>A	XP_016878725.1:n.1756+12G>A
XR_001751903.1:n.1960G>A