Canonical Allele Identifier: CA394488835

Gene: MEFV

Linked Data

• MyVariant Identifiers: chr16:g.3293872G>T (hg19) ; chr16:g.3243872G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243872G>T , CM000678.2:g.3243872G>T	GRCh38
NC_000016.9:g.3293872G>T , CM000678.1:g.3293872G>T	GRCh37
NC_000016.8:g.3233873G>T	NCBI36
NG_007871.1:g.17756C>A , LRG_190:g.17756C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.901C>A
ENST00000219596.6:c.1780C>A MANE Select	ENSP00000219596.1:p.Gln594Lys
ENST00000219596.5:c.1780C>A	ENSP00000219596.1:p.Gln594Lys
ENST00000339854.8:c.1240C>A	ENSP00000339639.4:p.Gln414Lys
ENST00000536379.5:c.1147C>A	ENSP00000445079.1:p.Gln383Lys
ENST00000536980.5:c.*56C>A	ENSP00000444178.1:n.*56C>A
ENST00000537682.5:c.*56C>A	ENSP00000438611.1:n.*56C>A
ENST00000538326.5:c.*405C>A	ENSP00000437486.1:n.*405C>A
ENST00000539145.5:c.701C>A	ENSP00000444471.1:n.701C>A
ENST00000541159.5:c.1322C>A	ENSP00000438711.1:p.Ser441Ter
ENST00000542898.5:c.*56C>A	ENSP00000444615.1:n.*56C>A
ENST00000570511.5:c.1185C>A	ENSP00000458312.1:n.1185C>A
ENST00000572244.5:c.470C>A	ENSP00000461186.1:n.470C>A
ENST00000574583.5:c.552C>A	ENSP00000460269.1:n.552C>A
ENST00000576315.5:c.585C>A	ENSP00000460551.1:n.585C>A
ENST00000621655.1:c.1317C>A	ENSP00000481436.1:n.1317C>A
NM_000243.2:c.1780C>A , LRG_190t1:c.1780C>A	NP_000234.1:p.Gln594Lys
NM_001198536.1:c.1322C>A	NP_001185465.1:p.Ser441Ter
XM_017023236.2:c.1777C>A	XP_016878725.1:p.Gln593Lys
XR_001751903.1:n.2087C>A
NM_000243.3:c.1780C>A MANE Select	NP_000234.1:p.Gln594Lys
NM_001198536.2:c.1322C>A	NP_001185465.2:p.Ser441Ter