Canonical Allele Identifier: CA493383479

Gene: MEFV

Linked Data

• MyVariant Identifiers: chr16:g.3293534G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243534G>C , CM000678.2:g.3243534G>C	GRCh38
NC_000016.9:g.3293534G>C , CM000678.1:g.3293534G>C	GRCh37
NC_000016.8:g.3233535G>C	NCBI36
NG_007871.1:g.18094C>G , LRG_190:g.18094C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000697124.1:n.1074C>G
ENST00000219596.6:c.1953C>G MANE Select	ENSP00000219596.1:p.Gly651=
ENST00000219596.5:c.1953C>G	ENSP00000219596.1:p.Gly651=
ENST00000339854.8:c.1413C>G	ENSP00000339639.4:p.Gly471=
ENST00000536379.5:c.1320C>G	ENSP00000445079.1:p.Gly440=
ENST00000536980.5:c.*229C>G	ENSP00000444178.1:n.*229C>G
ENST00000537682.5:c.*229C>G	ENSP00000438611.1:n.*229C>G
ENST00000538326.5:c.*578C>G	ENSP00000437486.1:n.*578C>G
ENST00000539145.5:c.874C>G	ENSP00000444471.1:n.874C>G
ENST00000541159.5:c.1495C>G	ENSP00000438711.1:n.1495C>G
ENST00000542898.5:c.*229C>G	ENSP00000444615.1:n.*229C>G
ENST00000570511.5:c.1358C>G	ENSP00000458312.1:n.1358C>G
ENST00000572244.5:c.643C>G	ENSP00000461186.1:n.643C>G
ENST00000574583.5:c.725C>G	ENSP00000460269.1:n.725C>G
ENST00000576315.5:c.758C>G	ENSP00000460551.1:n.758C>G
ENST00000621655.1:c.1490C>G	ENSP00000481436.1:n.1490C>G
NM_000243.2:c.1953C>G , LRG_190t1:c.1953C>G	NP_000234.1:p.Gly651=
NM_001198536.1:c.*157C>G	NP_001185465.1:n.*157C>G
XM_017023236.2:c.1950C>G	XP_016878725.1:p.Gly650=
NM_000243.3:c.1953C>G MANE Select	NP_000234.1:p.Gly651=
NM_001198536.2:c.*157C>G	NP_001185465.2:n.*157C>G