Canonical Allele Identifier: CA493208925

Gene: MEFV

Linked Data

• ClinVar Variation Id: 2881405
• ClinVar RCV Id: RCV003606617
• dbSNP Id: rs1958911366
• MyVariant Identifiers: chr16:g.3294585A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3244585A>G , CM000678.2:g.3244585A>G	GRCh38
NC_000016.9:g.3294585A>G , CM000678.1:g.3294585A>G	GRCh37
NC_000016.8:g.3234586A>G	NCBI36
NG_007871.1:g.17043T>C , LRG_190:g.17043T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.735T>C
ENST00000219596.6:c.1614T>C MANE Select	ENSP00000219596.1:p.Ala538=
ENST00000219596.5:c.1614T>C	ENSP00000219596.1:p.Ala538=
ENST00000339854.8:c.1074T>C	ENSP00000339639.4:p.Ala358=
ENST00000536379.5:c.981T>C	ENSP00000445079.1:p.Ala327=
ENST00000536980.5:c.981T>C	ENSP00000444178.1:p.Ala327=
ENST00000537682.5:c.1614T>C	ENSP00000438611.1:p.Ala538=
ENST00000538326.5:c.*239T>C	ENSP00000437486.1:n.*239T>C
ENST00000539145.5:c.535T>C	ENSP00000444471.1:n.535T>C
ENST00000541159.5:c.981T>C	ENSP00000438711.1:p.Ala327=
ENST00000542898.5:c.1707T>C	ENSP00000444615.1:p.Ala569=
ENST00000570511.5:c.1165-693T>C	ENSP00000458312.1:n.1165-693T>C
ENST00000572244.5:c.304T>C	ENSP00000461186.1:p.Ter102Gln
ENST00000574583.5:c.532-693T>C	ENSP00000460269.1:n.532-693T>C
ENST00000576315.5:c.532-299T>C	ENSP00000460551.1:n.532-299T>C
ENST00000621655.1:c.981T>C	ENSP00000481436.1:p.Ala327=
NM_000243.2:c.1614T>C , LRG_190t1:c.1614T>C	NP_000234.1:p.Ala538=
NM_001198536.1:c.981T>C	NP_001185465.1:p.Ala327=
XM_017023236.2:c.1611T>C	XP_016878725.1:p.Ala537=
XR_001751903.1:n.1803T>C
NM_000243.3:c.1614T>C MANE Select	NP_000234.1:p.Ala538=
NM_001198536.2:c.981T>C	NP_001185465.2:p.Ala327=