Canonical Allele Identifier: CA2202658388
Gene: MEFV HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3242928T= , CM000678.2:g.3242928T= GRCh38
NC_000016.9:g.3292928T= , CM000678.1:g.3292928T= GRCh37
NC_000016.8:g.3232929T= NCBI36
NG_007871.1:g.18700A= , LRG_190:g.18700A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000697124.1:n.1680A=
ENST00000219596.6:c.*213A= MANE Select ENSP00000219596.1:n.*213A=
ENST00000219596.5:c.*213A= ENSP00000219596.1:n.*213A=
ENST00000339854.8:c.*213A= ENSP00000339639.4:n.*213A=
ENST00000536980.5:c.*835A= ENSP00000444178.1:n.*835A=
ENST00000537682.5:c.*835A= ENSP00000438611.1:n.*835A=
ENST00000538326.5:c.*1184A= ENSP00000437486.1:n.*1184A=
ENST00000542898.5:c.*835A= ENSP00000444615.1:n.*835A=
NM_000243.2:c.*213A= , LRG_190t1:c.*213A= NP_000234.1:n.*213A=
NM_001198536.1:c.*763A= NP_001185465.1:n.*763A=
NM_000243.3:c.*213A= MANE Select NP_000234.1:n.*213A=
NM_001198536.2:c.*763A= NP_001185465.2:n.*763A=