Canonical Allele Identifier: CA394484868

Gene: MEFV

Linked Data

• MyVariant Identifiers: chr16:g.3293227G>C (hg19) ; chr16:g.3243227G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243227G>C , CM000678.2:g.3243227G>C	GRCh38
NC_000016.9:g.3293227G>C , CM000678.1:g.3293227G>C	GRCh37
NC_000016.8:g.3233228G>C	NCBI36
NG_007871.1:g.18401C>G , LRG_190:g.18401C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1381C>G
ENST00000219596.6:c.2260C>G MANE Select	ENSP00000219596.1:p.Pro754Ala
ENST00000219596.5:c.2260C>G	ENSP00000219596.1:p.Pro754Ala
ENST00000339854.8:c.1720C>G	ENSP00000339639.4:p.Pro574Ala
ENST00000536379.5:c.1627C>G	ENSP00000445079.1:p.Pro543Ala
ENST00000536980.5:c.*536C>G	ENSP00000444178.1:n.*536C>G
ENST00000537682.5:c.*536C>G	ENSP00000438611.1:n.*536C>G
ENST00000538326.5:c.*885C>G	ENSP00000437486.1:n.*885C>G
ENST00000539145.5:c.1181C>G	ENSP00000444471.1:n.1181C>G
ENST00000541159.5:c.1802C>G	ENSP00000438711.1:n.1802C>G
ENST00000542898.5:c.*536C>G	ENSP00000444615.1:n.*536C>G
ENST00000570511.5:c.1665C>G	ENSP00000458312.1:n.1665C>G
ENST00000572244.5:c.950C>G	ENSP00000461186.1:n.950C>G
ENST00000574583.5:c.1032C>G	ENSP00000460269.1:n.1032C>G
ENST00000576315.5:c.1065C>G	ENSP00000460551.1:n.1065C>G
ENST00000621655.1:c.1797C>G	ENSP00000481436.1:n.1797C>G
NM_000243.2:c.2260C>G , LRG_190t1:c.2260C>G	NP_000234.1:p.Pro754Ala
NM_001198536.1:c.*464C>G	NP_001185465.1:n.*464C>G
XM_017023236.2:c.2257C>G	XP_016878725.1:p.Pro753Ala
NM_000243.3:c.2260C>G MANE Select	NP_000234.1:p.Pro754Ala
NM_001198536.2:c.*464C>G	NP_001185465.2:n.*464C>G