Canonical Allele Identifier: CA493208330

Gene: MEFV

Linked Data

• MyVariant Identifiers: chr16:g.3294519G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3244519G>A , CM000678.2:g.3244519G>A	GRCh38
NC_000016.9:g.3294519G>A , CM000678.1:g.3294519G>A	GRCh37
NC_000016.8:g.3234520G>A	NCBI36
NG_007871.1:g.17109C>T , LRG_190:g.17109C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.801C>T
ENST00000219596.6:c.1680C>T MANE Select	ENSP00000219596.1:p.Leu560=
ENST00000219596.5:c.1680C>T	ENSP00000219596.1:p.Leu560=
ENST00000339854.8:c.1140C>T	ENSP00000339639.4:p.Leu380=
ENST00000536379.5:c.1047C>T	ENSP00000445079.1:p.Leu349=
ENST00000536980.5:c.1047C>T	ENSP00000444178.1:p.Leu349=
ENST00000537682.5:c.1680C>T	ENSP00000438611.1:p.Leu560=
ENST00000538326.5:c.*305C>T	ENSP00000437486.1:n.*305C>T
ENST00000539145.5:c.601C>T	ENSP00000444471.1:n.601C>T
ENST00000541159.5:c.1047C>T	ENSP00000438711.1:p.Leu349=
ENST00000542898.5:c.1773C>T	ENSP00000444615.1:p.Leu591=
ENST00000570511.5:c.1165-627C>T	ENSP00000458312.1:n.1165-627C>T
ENST00000572244.5:c.370C>T	ENSP00000461186.1:n.370C>T
ENST00000574583.5:c.532-627C>T	ENSP00000460269.1:n.532-627C>T
ENST00000576315.5:c.532-233C>T	ENSP00000460551.1:n.532-233C>T
ENST00000621655.1:c.1047C>T	ENSP00000481436.1:p.Leu349=
NM_000243.2:c.1680C>T , LRG_190t1:c.1680C>T	NP_000234.1:p.Leu560=
NM_001198536.1:c.1047C>T	NP_001185465.1:p.Leu349=
XM_017023236.2:c.1677C>T	XP_016878725.1:p.Leu559=
XR_001751903.1:n.1869C>T
NM_000243.3:c.1680C>T MANE Select	NP_000234.1:p.Leu560=
NM_001198536.2:c.1047C>T	NP_001185465.2:p.Leu349=