Canonical Allele Identifier: CA394463294

Gene: MEFV

Linked Data

• MyVariant Identifiers: chr16:g.3297044T>C (hg19) ; chr16:g.3247044T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3247044T>C , CM000678.2:g.3247044T>C	GRCh38
NC_000016.9:g.3297044T>C , CM000678.1:g.3297044T>C	GRCh37
NC_000016.8:g.3237045T>C	NCBI36
NG_007871.1:g.14584A>G , LRG_190:g.14584A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000219596.6:c.1559A>G MANE Select	ENSP00000219596.1:p.Glu520Gly
ENST00000219596.5:c.1559A>G	ENSP00000219596.1:p.Glu520Gly
ENST00000339854.8:c.1019A>G	ENSP00000339639.4:p.Glu340Gly
ENST00000536379.5:c.926A>G	ENSP00000445079.1:p.Glu309Gly
ENST00000536980.5:c.926A>G	ENSP00000444178.1:p.Glu309Gly
ENST00000537682.5:c.1559A>G	ENSP00000438611.1:p.Glu520Gly
ENST00000538326.5:c.*184A>G	ENSP00000437486.1:n.*184A>G
ENST00000539145.5:c.480A>G	ENSP00000444471.1:n.480A>G
ENST00000539154.1:n.924A>G
ENST00000541159.5:c.926A>G	ENSP00000438711.1:p.Glu309Gly
ENST00000542898.5:c.1652A>G	ENSP00000444615.1:p.Glu551Gly
ENST00000570511.5:c.1113A>G	ENSP00000458312.1:n.1113A>G
ENST00000572244.5:c.278-497A>G	ENSP00000461186.1:n.278-497A>G
ENST00000574583.5:c.480A>G	ENSP00000460269.1:n.480A>G
ENST00000576315.5:c.480A>G	ENSP00000460551.1:n.480A>G
ENST00000621655.1:c.926A>G	ENSP00000481436.1:p.Glu309Gly
NM_000243.2:c.1559A>G , LRG_190t1:c.1559A>G	NP_000234.1:p.Glu520Gly
NM_001198536.1:c.926A>G	NP_001185465.1:p.Glu309Gly
XM_017023236.2:c.1556A>G	XP_016878725.1:p.Glu519Gly
XR_001751903.1:n.1748A>G
NM_000243.3:c.1559A>G MANE Select	NP_000234.1:p.Glu520Gly
NM_001198536.2:c.926A>G	NP_001185465.2:p.Glu309Gly