Canonical Allele Identifier: CA2575889652

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243794A>G , CM000678.2:g.3243794A>G	GRCh38
NC_000016.9:g.3293794A>G , CM000678.1:g.3293794A>G	GRCh37
NC_000016.8:g.3233795A>G	NCBI36
NG_007871.1:g.17834T>C , LRG_190:g.17834T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.913+66T>C
ENST00000219596.6:c.1792+66T>C MANE Select	ENSP00000219596.1:n.1792+66T>C
ENST00000219596.5:c.1792+66T>C	ENSP00000219596.1:n.1792+66T>C
ENST00000339854.8:c.1252+66T>C	ENSP00000339639.4:n.1252+66T>C
ENST00000536379.5:c.1159+66T>C	ENSP00000445079.1:n.1159+66T>C
ENST00000536980.5:c.*68+66T>C	ENSP00000444178.1:n.*68+66T>C
ENST00000537682.5:c.*68+66T>C	ENSP00000438611.1:n.*68+66T>C
ENST00000538326.5:c.*417+66T>C	ENSP00000437486.1:n.*417+66T>C
ENST00000539145.5:c.713+66T>C	ENSP00000444471.1:n.713+66T>C
ENST00000541159.5:c.1334+66T>C	ENSP00000438711.1:n.1334+66T>C
ENST00000542898.5:c.*68+66T>C	ENSP00000444615.1:n.*68+66T>C
ENST00000570511.5:c.1197+66T>C	ENSP00000458312.1:n.1197+66T>C
ENST00000572244.5:c.482+66T>C	ENSP00000461186.1:n.482+66T>C
ENST00000574583.5:c.564+66T>C	ENSP00000460269.1:n.564+66T>C
ENST00000576315.5:c.597+66T>C	ENSP00000460551.1:n.597+66T>C
ENST00000621655.1:c.1329+66T>C	ENSP00000481436.1:n.1329+66T>C
NM_000243.2:c.1792+66T>C , LRG_190t1:c.1792+66T>C	NP_000234.1:n.1792+66T>C
NM_001198536.1:c.1334+66T>C	NP_001185465.1:n.1334+66T>C
XM_017023236.2:c.1789+66T>C	XP_016878725.1:n.1789+66T>C
XR_001751903.1:n.2099+66T>C
NM_000243.3:c.1792+66T>C MANE Select	NP_000234.1:n.1792+66T>C
NM_001198536.2:c.1334+66T>C	NP_001185465.2:n.1334+66T>C