Canonical Allele Identifier: CA2202658384
Gene: MEFV HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3242916T= , CM000678.2:g.3242916T= GRCh38
NC_000016.9:g.3292916T= , CM000678.1:g.3292916T= GRCh37
NC_000016.8:g.3232917T= NCBI36
NG_007871.1:g.18712A= , LRG_190:g.18712A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000697124.1:n.1692A=
ENST00000219596.6:c.*225A= MANE Select ENSP00000219596.1:n.*225A=
ENST00000219596.5:c.*225A= ENSP00000219596.1:n.*225A=
ENST00000339854.8:c.*225A= ENSP00000339639.4:n.*225A=
ENST00000536980.5:c.*847A= ENSP00000444178.1:n.*847A=
ENST00000537682.5:c.*847A= ENSP00000438611.1:n.*847A=
ENST00000538326.5:c.*1196A= ENSP00000437486.1:n.*1196A=
ENST00000542898.5:c.*847A= ENSP00000444615.1:n.*847A=
NM_000243.2:c.*225A= , LRG_190t1:c.*225A= NP_000234.1:n.*225A=
NM_001198536.1:c.*775A= NP_001185465.1:n.*775A=
NM_000243.3:c.*225A= MANE Select NP_000234.1:n.*225A=
NM_001198536.2:c.*775A= NP_001185465.2:n.*775A=