Canonical Allele Identifier: CA394458108

Gene: MEFV

Linked Data

• MyVariant Identifiers: chr16:g.3294502A>C (hg19) ; chr16:g.3244502A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3244502A>C , CM000678.2:g.3244502A>C	GRCh38
NC_000016.9:g.3294502A>C , CM000678.1:g.3294502A>C	GRCh37
NC_000016.8:g.3234503A>C	NCBI36
NG_007871.1:g.17126T>G , LRG_190:g.17126T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.818T>G
ENST00000219596.6:c.1697T>G MANE Select	ENSP00000219596.1:p.Phe566Cys
ENST00000219596.5:c.1697T>G	ENSP00000219596.1:p.Phe566Cys
ENST00000339854.8:c.1157T>G	ENSP00000339639.4:p.Phe386Cys
ENST00000536379.5:c.1064T>G	ENSP00000445079.1:p.Phe355Cys
ENST00000536980.5:c.1064T>G	ENSP00000444178.1:p.Phe355Cys
ENST00000537682.5:c.1697T>G	ENSP00000438611.1:p.Phe566Cys
ENST00000538326.5:c.*322T>G	ENSP00000437486.1:n.*322T>G
ENST00000539145.5:c.618T>G	ENSP00000444471.1:n.618T>G
ENST00000541159.5:c.1064T>G	ENSP00000438711.1:p.Phe355Cys
ENST00000542898.5:c.1790T>G	ENSP00000444615.1:p.Phe597Cys
ENST00000570511.5:c.1165-610T>G	ENSP00000458312.1:n.1165-610T>G
ENST00000572244.5:c.387T>G	ENSP00000461186.1:n.387T>G
ENST00000574583.5:c.532-610T>G	ENSP00000460269.1:n.532-610T>G
ENST00000576315.5:c.532-216T>G	ENSP00000460551.1:n.532-216T>G
ENST00000621655.1:c.1064T>G	ENSP00000481436.1:p.Phe355Cys
NM_000243.2:c.1697T>G , LRG_190t1:c.1697T>G	NP_000234.1:p.Phe566Cys
NM_001198536.1:c.1064T>G	NP_001185465.1:p.Phe355Cys
XM_017023236.2:c.1694T>G	XP_016878725.1:p.Phe565Cys
XR_001751903.1:n.1886T>G
NM_000243.3:c.1697T>G MANE Select	NP_000234.1:p.Phe566Cys
NM_001198536.2:c.1064T>G	NP_001185465.2:p.Phe355Cys