Canonical Allele Identifier: CA493383715

Gene: MEFV

Linked Data

• MyVariant Identifiers: chr16:g.3293363G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243363G>C , CM000678.2:g.3243363G>C	GRCh38
NC_000016.9:g.3293363G>C , CM000678.1:g.3293363G>C	GRCh37
NC_000016.8:g.3233364G>C	NCBI36
NG_007871.1:g.18265C>G , LRG_190:g.18265C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000697124.1:n.1245C>G
ENST00000219596.6:c.2124C>G MANE Select	ENSP00000219596.1:p.Arg708=
ENST00000219596.5:c.2124C>G	ENSP00000219596.1:p.Arg708=
ENST00000339854.8:c.1584C>G	ENSP00000339639.4:p.Arg528=
ENST00000536379.5:c.1491C>G	ENSP00000445079.1:p.Arg497=
ENST00000536980.5:c.*400C>G	ENSP00000444178.1:n.*400C>G
ENST00000537682.5:c.*400C>G	ENSP00000438611.1:n.*400C>G
ENST00000538326.5:c.*749C>G	ENSP00000437486.1:n.*749C>G
ENST00000539145.5:c.1045C>G	ENSP00000444471.1:n.1045C>G
ENST00000541159.5:c.1666C>G	ENSP00000438711.1:n.1666C>G
ENST00000542898.5:c.*400C>G	ENSP00000444615.1:n.*400C>G
ENST00000570511.5:c.1529C>G	ENSP00000458312.1:n.1529C>G
ENST00000572244.5:c.814C>G	ENSP00000461186.1:n.814C>G
ENST00000574583.5:c.896C>G	ENSP00000460269.1:n.896C>G
ENST00000576315.5:c.929C>G	ENSP00000460551.1:n.929C>G
ENST00000621655.1:c.1661C>G	ENSP00000481436.1:n.1661C>G
NM_000243.2:c.2124C>G , LRG_190t1:c.2124C>G	NP_000234.1:p.Arg708=
NM_001198536.1:c.*328C>G	NP_001185465.1:n.*328C>G
XM_017023236.2:c.2121C>G	XP_016878725.1:p.Arg707=
NM_000243.3:c.2124C>G MANE Select	NP_000234.1:p.Arg708=
NM_001198536.2:c.*328C>G	NP_001185465.2:n.*328C>G