Canonical Allele Identifier: CA394489091
Gene: MEFV HGNC NCBI

Linked Data

ClinVar Variation Id: 1530174
ClinVar RCV Id: RCV002080193
dbSNP Id: rs917769808
gnomAD v2: 16-3293911-T-C
gnomAD v4: 16-3243911-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3243911T>C , CM000678.2:g.3243911T>C GRCh38
NC_000016.9:g.3293911T>C , CM000678.1:g.3293911T>C GRCh37
NC_000016.8:g.3233912T>C NCBI36
NG_007871.1:g.17717A>G , LRG_190:g.17717A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000697124.1:n.881-19A>G
ENST00000219596.6:c.1760-19A>G MANE Select ENSP00000219596.1:n.1760-19A>G
ENST00000219596.5:c.1760-19A>G ENSP00000219596.1:n.1760-19A>G
ENST00000339854.8:c.1220-19A>G ENSP00000339639.4:n.1220-19A>G
ENST00000536379.5:c.1127-19A>G ENSP00000445079.1:n.1127-19A>G
ENST00000536980.5:c.*36-19A>G ENSP00000444178.1:n.*36-19A>G
ENST00000537682.5:c.*36-19A>G ENSP00000438611.1:n.*36-19A>G
ENST00000538326.5:c.*385-19A>G ENSP00000437486.1:n.*385-19A>G
ENST00000539145.5:c.681-19A>G ENSP00000444471.1:n.681-19A>G
ENST00000541159.5:c.1283A>G ENSP00000438711.1:p.Tyr428Cys
ENST00000542898.5:c.*36-19A>G ENSP00000444615.1:n.*36-19A>G
ENST00000570511.5:c.1165-19A>G ENSP00000458312.1:n.1165-19A>G
ENST00000572244.5:c.450-19A>G ENSP00000461186.1:n.450-19A>G
ENST00000574583.5:c.532-19A>G ENSP00000460269.1:n.532-19A>G
ENST00000576315.5:c.565-19A>G ENSP00000460551.1:n.565-19A>G
ENST00000621655.1:c.1278A>G ENSP00000481436.1:n.1278A>G
NM_000243.2:c.1760-19A>G , LRG_190t1:c.1760-19A>G NP_000234.1:n.1760-19A>G
NM_001198536.1:c.1283A>G NP_001185465.1:p.Tyr428Cys
XM_017023236.2:c.1757-19A>G XP_016878725.1:n.1757-19A>G
XR_001751903.1:n.2067-19A>G
NM_000243.3:c.1760-19A>G MANE Select NP_000234.1:n.1760-19A>G
NM_001198536.2:c.1283A>G NP_001185465.2:p.Tyr428Cys