Canonical Allele Identifier: CA280114
Gene: MEFV HGNC NCBI

Linked Data

ClinVar Variation Id: 2551
dbSNP Id: rs11466023

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3249586G>A , CM000678.2:g.3249586G>A GRCh38
NC_000016.9:g.3299586G>A , CM000678.1:g.3299586G>A GRCh37
NC_000016.8:g.3239587G>A NCBI36
NG_007871.1:g.12042C>T , LRG_190:g.12042C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000219596.6:c.1105C>T MANE Select ENSP00000219596.1:p.Pro369Ser
ENST00000219596.5:c.1105C>T ENSP00000219596.1:p.Pro369Ser
ENST00000339854.8:c.565C>T ENSP00000339639.4:p.Pro189Ser
ENST00000536379.5:n.472C>T ENSP00000445079.1:p.Pro158Ser
ENST00000536980.5:c.472C>T ENSP00000444178.1:p.Pro158Ser
ENST00000537682.5:c.1105C>T ENSP00000438611.1:p.Pro369Ser
ENST00000538326.5:c.1105C>T ENSP00000437486.1:p.Pro369Ser
ENST00000539145.5:n.278-2340C>T ENSP00000444471.1:n.278-2340C>T
ENST00000541159.5:n.472C>T ENSP00000438711.1:p.Pro158Ser
ENST00000542898.5:c.1198C>T ENSP00000444615.1:p.Pro400Ser
ENST00000570511.5:n.911-2340C>T ENSP00000458312.1:n.911-2340C>T
ENST00000572244.5:n.278-3039C>T ENSP00000461186.1:n.278-3039C>T
ENST00000574583.5:n.278-2340C>T ENSP00000460269.1:n.278-2340C>T
ENST00000576315.5:n.278-2340C>T ENSP00000460551.1:n.278-2340C>T
ENST00000621655.1:n.472C>T ENSP00000481436.1:p.Pro158Ser
NM_000243.2:c.1105C>T , LRG_190t1:c.1105C>T NP_000234.1:p.Pro369Ser
NM_001198536.1:c.472C>T NP_001185465.1:p.Pro158Ser
XM_017023236.2:c.1105C>T XP_016878725.1:p.Pro369Ser
XR_001751903.1:n.1294C>T
NM_000243.3:c.1105C>T MANE Select NP_000234.1:p.Pro369Ser
NM_001198536.2:c.472C>T NP_001185465.2:p.Pro158Ser