Canonical Allele Identifier: CA493258130

Gene: MEFV

Linked Data

• MyVariant Identifiers: chr16:g.3293255G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243255G>C , CM000678.2:g.3243255G>C	GRCh38
NC_000016.9:g.3293255G>C , CM000678.1:g.3293255G>C	GRCh37
NC_000016.8:g.3233256G>C	NCBI36
NG_007871.1:g.18373C>G , LRG_190:g.18373C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1353C>G
ENST00000219596.6:c.2232C>G MANE Select	ENSP00000219596.1:p.Ala744=
ENST00000219596.5:c.2232C>G	ENSP00000219596.1:p.Ala744=
ENST00000339854.8:c.1692C>G	ENSP00000339639.4:p.Ala564=
ENST00000536379.5:c.1599C>G	ENSP00000445079.1:p.Ala533=
ENST00000536980.5:c.*508C>G	ENSP00000444178.1:n.*508C>G
ENST00000537682.5:c.*508C>G	ENSP00000438611.1:n.*508C>G
ENST00000538326.5:c.*857C>G	ENSP00000437486.1:n.*857C>G
ENST00000539145.5:c.1153C>G	ENSP00000444471.1:n.1153C>G
ENST00000541159.5:c.1774C>G	ENSP00000438711.1:n.1774C>G
ENST00000542898.5:c.*508C>G	ENSP00000444615.1:n.*508C>G
ENST00000570511.5:c.1637C>G	ENSP00000458312.1:n.1637C>G
ENST00000572244.5:c.922C>G	ENSP00000461186.1:n.922C>G
ENST00000574583.5:c.1004C>G	ENSP00000460269.1:n.1004C>G
ENST00000576315.5:c.1037C>G	ENSP00000460551.1:n.1037C>G
ENST00000621655.1:c.1769C>G	ENSP00000481436.1:n.1769C>G
NM_000243.2:c.2232C>G , LRG_190t1:c.2232C>G	NP_000234.1:p.Ala744=
NM_001198536.1:c.*436C>G	NP_001185465.1:n.*436C>G
XM_017023236.2:c.2229C>G	XP_016878725.1:p.Ala743=
NM_000243.3:c.2232C>G MANE Select	NP_000234.1:p.Ala744=
NM_001198536.2:c.*436C>G	NP_001185465.2:n.*436C>G