Canonical Allele Identifier: CA280101
Gene: MEFV HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 2544
ClinVar RCV Id: RCV000002653
dbSNP Id: rs104895081

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3254268G>A , CM000678.2:g.3254268G>A GRCh38
NC_000016.9:g.3304268G>A , CM000678.1:g.3304268G>A GRCh37
NC_000016.8:g.3244269G>A NCBI36
NG_007871.1:g.7360C>T , LRG_190:g.7360C>T

Transcript Alleles

HGVS Amino-acid change
NM_000243.2:c.800C>T , LRG_190t1:c.800C>T NP_000234.1:p.Thr267Ile
NM_001198536.1:c.277+2043C>T VV NP_001185465.1:p.=
XM_017023236.2:c.800C>T XP_016878725.1:p.Thr267Ile
XR_001751903.1:n.989C>T
ENST00000219596.5:c.800C>T ENSP00000219596.1:p.Thr267Ile
ENST00000339854.8:c.277+2043C>T ENSP00000339639.4:p.=
ENST00000536379.5:n.277+2043C>T ENSP00000445079.1:p.=
ENST00000536980.5:c.277+2043C>T ENSP00000444178.1:p.=
ENST00000537682.5:c.800C>T ENSP00000438611.1:p.Thr267Ile
ENST00000538326.5:c.800C>T ENSP00000437486.1:p.Thr267Ile
ENST00000539145.5:n.277+2043C>T ENSP00000444471.1:p.=
ENST00000541159.5:n.277+2043C>T ENSP00000438711.1:p.=
ENST00000542898.5:c.800C>T ENSP00000444615.1:p.Thr267Ile
ENST00000570511.5:n.800C>T ENSP00000458312.1:p.Thr267Ile
ENST00000572244.5:n.277+2043C>T ENSP00000461186.1:p.=
ENST00000574583.5:n.277+2043C>T ENSP00000460269.1:p.=
ENST00000576315.5:n.277+2043C>T ENSP00000460551.1:p.=
ENST00000621655.1:n.277+2043C>T ENSP00000481436.1:p.=