Canonical Allele Identifier: CA658656509
Gene: MEFV HGNC NCBI

Linked Data

ClinVar Variation Id: 449657
ClinVar RCV Id: RCV000519280
dbSNP Id: rs1555458284

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3243405_3243407delinsTAC , CM000678.2:g.3243405_3243407delinsTAC GRCh38
NC_000016.9:g.3293405_3293407delinsTAC , CM000678.1:g.3293405_3293407delinsTAC GRCh37
NC_000016.8:g.3233406_3233408delinsTAC NCBI36
NG_007871.1:g.18221_18223delinsGTA , LRG_190:g.18221_18223delinsGTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000697124.1:n.1201_1203delinsGTA
ENST00000219596.6:c.2080_2082delinsGTA MANE Select ENSP00000219596.1:p.Met694Val
ENST00000219596.5:c.2080_2082delinsGTA ENSP00000219596.1:p.Met694Val
ENST00000339854.8:c.1540_1542delinsGTA ENSP00000339639.4:p.Met514Val
ENST00000536379.5:c.1447_1449delinsGTA ENSP00000445079.1:p.Met483Val
ENST00000536980.5:c.*356_*358delinsGTA ENSP00000444178.1:n.*356_*358delinsGTA
ENST00000537682.5:c.*356_*358delinsGTA ENSP00000438611.1:n.*356_*358delinsGTA
ENST00000538326.5:c.*705_*707delinsGTA ENSP00000437486.1:n.*705_*707delinsGTA
ENST00000539145.5:c.1001_1003delinsGTA ENSP00000444471.1:n.1001_1003delinsGTA
ENST00000541159.5:c.1622_1624delinsGTA ENSP00000438711.1:n.1622_1624delinsGTA
ENST00000542898.5:c.*356_*358delinsGTA ENSP00000444615.1:n.*356_*358delinsGTA
ENST00000570511.5:c.1485_1487delinsGTA ENSP00000458312.1:n.1485_1487delinsGTA
ENST00000572244.5:c.770_772delinsGTA ENSP00000461186.1:n.770_772delinsGTA
ENST00000574583.5:c.852_854delinsGTA ENSP00000460269.1:n.852_854delinsGTA
ENST00000576315.5:c.885_887delinsGTA ENSP00000460551.1:n.885_887delinsGTA
ENST00000621655.1:c.1617_1619delinsGTA ENSP00000481436.1:n.1617_1619delinsGTA
NM_000243.2:c.2080_2082delinsGTA , LRG_190t1:c.2080_2082delinsGTA NP_000234.1:p.Met694Val
NM_001198536.1:c.*284_*286delinsGTA NP_001185465.1:n.*284_*286delinsGTA
XM_017023236.2:c.2077_2079delinsGTA XP_016878725.1:p.Met693Val
NM_000243.3:c.2080_2082delinsGTA MANE Select NP_000234.1:p.Met694Val
NM_001198536.2:c.*284_*286delinsGTA NP_001185465.2:n.*284_*286delinsGTA