Canonical Allele Identifier: CA493383779

Gene: MEFV

Linked Data

• MyVariant Identifiers: chr16:g.3293453C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243453C>G , CM000678.2:g.3243453C>G	GRCh38
NC_000016.9:g.3293453C>G , CM000678.1:g.3293453C>G	GRCh37
NC_000016.8:g.3233454C>G	NCBI36
NG_007871.1:g.18175G>C , LRG_190:g.18175G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000697124.1:n.1155G>C
ENST00000219596.6:c.2034G>C MANE Select	ENSP00000219596.1:p.Gly678=
ENST00000219596.5:c.2034G>C	ENSP00000219596.1:p.Gly678=
ENST00000339854.8:c.1494G>C	ENSP00000339639.4:p.Gly498=
ENST00000536379.5:c.1401G>C	ENSP00000445079.1:p.Gly467=
ENST00000536980.5:c.*310G>C	ENSP00000444178.1:n.*310G>C
ENST00000537682.5:c.*310G>C	ENSP00000438611.1:n.*310G>C
ENST00000538326.5:c.*659G>C	ENSP00000437486.1:n.*659G>C
ENST00000539145.5:c.955G>C	ENSP00000444471.1:n.955G>C
ENST00000541159.5:c.1576G>C	ENSP00000438711.1:n.1576G>C
ENST00000542898.5:c.*310G>C	ENSP00000444615.1:n.*310G>C
ENST00000570511.5:c.1439G>C	ENSP00000458312.1:n.1439G>C
ENST00000572244.5:c.724G>C	ENSP00000461186.1:n.724G>C
ENST00000574583.5:c.806G>C	ENSP00000460269.1:n.806G>C
ENST00000576315.5:c.839G>C	ENSP00000460551.1:n.839G>C
ENST00000621655.1:c.1571G>C	ENSP00000481436.1:n.1571G>C
NM_000243.2:c.2034G>C , LRG_190t1:c.2034G>C	NP_000234.1:p.Gly678=
NM_001198536.1:c.*238G>C	NP_001185465.1:n.*238G>C
XM_017023236.2:c.2031G>C	XP_016878725.1:p.Gly677=
NM_000243.3:c.2034G>C MANE Select	NP_000234.1:p.Gly678=
NM_001198536.2:c.*238G>C	NP_001185465.2:n.*238G>C