Canonical Allele Identifier: CA394487420

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243530G>T , CM000678.2:g.3243530G>T	GRCh38
NC_000016.9:g.3293530G>T , CM000678.1:g.3293530G>T	GRCh37
NC_000016.8:g.3233531G>T	NCBI36
NG_007871.1:g.18098C>A , LRG_190:g.18098C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000243.3:c.1957C>A MANE Select	NP_000234.1:p.Arg653Ser
ENST00000219596.6:c.1957C>A MANE Select	ENSP00000219596.1:p.Arg653Ser
NM_000243.2:c.1957C>A , LRG_190t1:c.1957C>A	NP_000234.1:p.Arg653Ser
NM_001198536.1:c.*161C>A	NP_001185465.1:n.*161C>A
NM_001198536.2:c.*161C>A	NP_001185465.2:n.*161C>A
ENST00000219596.5:c.1957C>A	ENSP00000219596.1:p.Arg653Ser
ENST00000339854.8:c.1417C>A	ENSP00000339639.4:p.Arg473Ser
ENST00000536379.5:c.1324C>A	ENSP00000445079.1:p.Arg442Ser
ENST00000536980.5:c.*233C>A	ENSP00000444178.1:n.*233C>A
ENST00000537682.5:c.*233C>A	ENSP00000438611.1:n.*233C>A
ENST00000538326.5:c.*582C>A	ENSP00000437486.1:n.*582C>A
ENST00000539145.5:c.878C>A	ENSP00000444471.1:n.878C>A
ENST00000541159.5:c.1499C>A	ENSP00000438711.1:n.1499C>A
ENST00000542898.5:c.*233C>A	ENSP00000444615.1:n.*233C>A
ENST00000570511.5:c.1362C>A	ENSP00000458312.1:n.1362C>A
ENST00000572244.5:c.647C>A	ENSP00000461186.1:n.647C>A
ENST00000574583.5:c.729C>A	ENSP00000460269.1:n.729C>A
ENST00000576315.5:c.762C>A	ENSP00000460551.1:n.762C>A
ENST00000621655.1:c.1494C>A	ENSP00000481436.1:n.1494C>A
ENST00000697124.1:n.1078C>A
XM_017023236.2:c.1954C>A	XP_016878725.1:p.Arg652Ser