Canonical Allele Identifier: CA7859901

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243598G>A , CM000678.2:g.3243598G>A	GRCh38
NC_000016.9:g.3293598G>A , CM000678.1:g.3293598G>A	GRCh37
NC_000016.8:g.3233599G>A	NCBI36
NG_007871.1:g.18030C>T , LRG_190:g.18030C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000243.3:c.1889C>T MANE Select	NP_000234.1:p.Pro630Leu
ENST00000219596.6:c.1889C>T MANE Select	ENSP00000219596.1:p.Pro630Leu
NM_000243.2:c.1889C>T , LRG_190t1:c.1889C>T	NP_000234.1:p.Pro630Leu
NM_001198536.1:c.*93C>T	NP_001185465.1:n.*93C>T
NM_001198536.2:c.*93C>T	NP_001185465.2:n.*93C>T
ENST00000219596.5:c.1889C>T	ENSP00000219596.1:p.Pro630Leu
ENST00000339854.8:c.1349C>T	ENSP00000339639.4:p.Pro450Leu
ENST00000536379.5:c.1256C>T	ENSP00000445079.1:p.Pro419Leu
ENST00000536980.5:c.*165C>T	ENSP00000444178.1:n.*165C>T
ENST00000537682.5:c.*165C>T	ENSP00000438611.1:n.*165C>T
ENST00000538326.5:c.*514C>T	ENSP00000437486.1:n.*514C>T
ENST00000539145.5:c.810C>T	ENSP00000444471.1:n.810C>T
ENST00000541159.5:c.1431C>T	ENSP00000438711.1:n.1431C>T
ENST00000542898.5:c.*165C>T	ENSP00000444615.1:n.*165C>T
ENST00000570511.5:c.1294C>T	ENSP00000458312.1:n.1294C>T
ENST00000572244.5:c.579C>T	ENSP00000461186.1:n.579C>T
ENST00000574583.5:c.661C>T	ENSP00000460269.1:n.661C>T
ENST00000576315.5:c.694C>T	ENSP00000460551.1:n.694C>T
ENST00000621655.1:c.1426C>T	ENSP00000481436.1:n.1426C>T
ENST00000697124.1:n.1010C>T
XM_017023236.2:c.1886C>T	XP_016878725.1:p.Pro629Leu