Canonical Allele Identifier: CA7859900

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243588C>T , CM000678.2:g.3243588C>T	GRCh38
NC_000016.9:g.3293588C>T , CM000678.1:g.3293588C>T	GRCh37
NC_000016.8:g.3233589C>T	NCBI36
NG_007871.1:g.18040G>A , LRG_190:g.18040G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000243.3:c.1899G>A MANE Select	NP_000234.1:p.Pro633=
ENST00000219596.6:c.1899G>A MANE Select	ENSP00000219596.1:p.Pro633=
NM_000243.2:c.1899G>A , LRG_190t1:c.1899G>A	NP_000234.1:p.Pro633=
NM_001198536.1:c.*103G>A	NP_001185465.1:n.*103G>A
NM_001198536.2:c.*103G>A	NP_001185465.2:n.*103G>A
ENST00000219596.5:c.1899G>A	ENSP00000219596.1:p.Pro633=
ENST00000339854.8:c.1359G>A	ENSP00000339639.4:p.Pro453=
ENST00000536379.5:c.1266G>A	ENSP00000445079.1:p.Pro422=
ENST00000536980.5:c.*175G>A	ENSP00000444178.1:n.*175G>A
ENST00000537682.5:c.*175G>A	ENSP00000438611.1:n.*175G>A
ENST00000538326.5:c.*524G>A	ENSP00000437486.1:n.*524G>A
ENST00000539145.5:c.820G>A	ENSP00000444471.1:n.820G>A
ENST00000541159.5:c.1441G>A	ENSP00000438711.1:n.1441G>A
ENST00000542898.5:c.*175G>A	ENSP00000444615.1:n.*175G>A
ENST00000570511.5:c.1304G>A	ENSP00000458312.1:n.1304G>A
ENST00000572244.5:c.589G>A	ENSP00000461186.1:n.589G>A
ENST00000574583.5:c.671G>A	ENSP00000460269.1:n.671G>A
ENST00000576315.5:c.704G>A	ENSP00000460551.1:n.704G>A
ENST00000621655.1:c.1436G>A	ENSP00000481436.1:n.1436G>A
ENST00000697124.1:n.1020G>A
XM_017023236.2:c.1896G>A	XP_016878725.1:p.Pro632=