Canonical Allele Identifier: CA394485457

Gene: MEFV

Linked Data

• MyVariant Identifiers: chr16:g.3293303G>C (hg19) ; chr16:g.3243303G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243303G>C , CM000678.2:g.3243303G>C	GRCh38
NC_000016.9:g.3293303G>C , CM000678.1:g.3293303G>C	GRCh37
NC_000016.8:g.3233304G>C	NCBI36
NG_007871.1:g.18325C>G , LRG_190:g.18325C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1305C>G
ENST00000219596.6:c.2184C>G MANE Select	ENSP00000219596.1:p.Ser728Arg
ENST00000219596.5:c.2184C>G	ENSP00000219596.1:p.Ser728Arg
ENST00000339854.8:c.1644C>G	ENSP00000339639.4:p.Ser548Arg
ENST00000536379.5:c.1551C>G	ENSP00000445079.1:p.Ser517Arg
ENST00000536980.5:c.*460C>G	ENSP00000444178.1:n.*460C>G
ENST00000537682.5:c.*460C>G	ENSP00000438611.1:n.*460C>G
ENST00000538326.5:c.*809C>G	ENSP00000437486.1:n.*809C>G
ENST00000539145.5:c.1105C>G	ENSP00000444471.1:n.1105C>G
ENST00000541159.5:c.1726C>G	ENSP00000438711.1:n.1726C>G
ENST00000542898.5:c.*460C>G	ENSP00000444615.1:n.*460C>G
ENST00000570511.5:c.1589C>G	ENSP00000458312.1:n.1589C>G
ENST00000572244.5:c.874C>G	ENSP00000461186.1:n.874C>G
ENST00000574583.5:c.956C>G	ENSP00000460269.1:n.956C>G
ENST00000576315.5:c.989C>G	ENSP00000460551.1:n.989C>G
ENST00000621655.1:c.1721C>G	ENSP00000481436.1:n.1721C>G
NM_000243.2:c.2184C>G , LRG_190t1:c.2184C>G	NP_000234.1:p.Ser728Arg
NM_001198536.1:c.*388C>G	NP_001185465.1:n.*388C>G
XM_017023236.2:c.2181C>G	XP_016878725.1:p.Ser727Arg
NM_000243.3:c.2184C>G MANE Select	NP_000234.1:p.Ser728Arg
NM_001198536.2:c.*388C>G	NP_001185465.2:n.*388C>G