Canonical Allele Identifier: CA394458739

Gene: MEFV

Linked Data

• MyVariant Identifiers: chr16:g.3294545C>G (hg19) ; chr16:g.3244545C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3244545C>G , CM000678.2:g.3244545C>G	GRCh38
NC_000016.9:g.3294545C>G , CM000678.1:g.3294545C>G	GRCh37
NC_000016.8:g.3234546C>G	NCBI36
NG_007871.1:g.17083G>C , LRG_190:g.17083G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.775G>C
ENST00000219596.6:c.1654G>C MANE Select	ENSP00000219596.1:p.Glu552Gln
ENST00000219596.5:c.1654G>C	ENSP00000219596.1:p.Glu552Gln
ENST00000339854.8:c.1114G>C	ENSP00000339639.4:p.Glu372Gln
ENST00000536379.5:c.1021G>C	ENSP00000445079.1:p.Glu341Gln
ENST00000536980.5:c.1021G>C	ENSP00000444178.1:p.Glu341Gln
ENST00000537682.5:c.1654G>C	ENSP00000438611.1:p.Glu552Gln
ENST00000538326.5:c.*279G>C	ENSP00000437486.1:n.*279G>C
ENST00000539145.5:c.575G>C	ENSP00000444471.1:n.575G>C
ENST00000541159.5:c.1021G>C	ENSP00000438711.1:p.Glu341Gln
ENST00000542898.5:c.1747G>C	ENSP00000444615.1:p.Glu583Gln
ENST00000570511.5:c.1165-653G>C	ENSP00000458312.1:n.1165-653G>C
ENST00000572244.5:c.344G>C	ENSP00000461186.1:n.344G>C
ENST00000574583.5:c.532-653G>C	ENSP00000460269.1:n.532-653G>C
ENST00000576315.5:c.532-259G>C	ENSP00000460551.1:n.532-259G>C
ENST00000621655.1:c.1021G>C	ENSP00000481436.1:p.Glu341Gln
NM_000243.2:c.1654G>C , LRG_190t1:c.1654G>C	NP_000234.1:p.Glu552Gln
NM_001198536.1:c.1021G>C	NP_001185465.1:p.Glu341Gln
XM_017023236.2:c.1651G>C	XP_016878725.1:p.Glu551Gln
XR_001751903.1:n.1843G>C
NM_000243.3:c.1654G>C MANE Select	NP_000234.1:p.Glu552Gln
NM_001198536.2:c.1021G>C	NP_001185465.2:p.Glu341Gln