Canonical Allele Identifier: CA394485433

Gene: MEFV

Linked Data

• MyVariant Identifiers: chr16:g.3293299A>T (hg19) ; chr16:g.3243299A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243299A>T , CM000678.2:g.3243299A>T	GRCh38
NC_000016.9:g.3293299A>T , CM000678.1:g.3293299A>T	GRCh37
NC_000016.8:g.3233300A>T	NCBI36
NG_007871.1:g.18329T>A , LRG_190:g.18329T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1309T>A
ENST00000219596.6:c.2188T>A MANE Select	ENSP00000219596.1:p.Ser730Thr
ENST00000219596.5:c.2188T>A	ENSP00000219596.1:p.Ser730Thr
ENST00000339854.8:c.1648T>A	ENSP00000339639.4:p.Ser550Thr
ENST00000536379.5:c.1555T>A	ENSP00000445079.1:p.Ser519Thr
ENST00000536980.5:c.*464T>A	ENSP00000444178.1:n.*464T>A
ENST00000537682.5:c.*464T>A	ENSP00000438611.1:n.*464T>A
ENST00000538326.5:c.*813T>A	ENSP00000437486.1:n.*813T>A
ENST00000539145.5:c.1109T>A	ENSP00000444471.1:n.1109T>A
ENST00000541159.5:c.1730T>A	ENSP00000438711.1:n.1730T>A
ENST00000542898.5:c.*464T>A	ENSP00000444615.1:n.*464T>A
ENST00000570511.5:c.1593T>A	ENSP00000458312.1:n.1593T>A
ENST00000572244.5:c.878T>A	ENSP00000461186.1:n.878T>A
ENST00000574583.5:c.960T>A	ENSP00000460269.1:n.960T>A
ENST00000576315.5:c.993T>A	ENSP00000460551.1:n.993T>A
ENST00000621655.1:c.1725T>A	ENSP00000481436.1:n.1725T>A
NM_000243.2:c.2188T>A , LRG_190t1:c.2188T>A	NP_000234.1:p.Ser730Thr
NM_001198536.1:c.*392T>A	NP_001185465.1:n.*392T>A
XM_017023236.2:c.2185T>A	XP_016878725.1:p.Ser729Thr
NM_000243.3:c.2188T>A MANE Select	NP_000234.1:p.Ser730Thr
NM_001198536.2:c.*392T>A	NP_001185465.2:n.*392T>A