Canonical Allele Identifier: CA2202658346
Gene: MEFV HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3242861C= , CM000678.2:g.3242861C= GRCh38
NC_000016.9:g.3292861C= , CM000678.1:g.3292861C= GRCh37
NC_000016.8:g.3232862C= NCBI36
NG_007871.1:g.18767G= , LRG_190:g.18767G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000697124.1:n.1747G=
ENST00000219596.6:c.*280G= MANE Select ENSP00000219596.1:n.*280G=
ENST00000219596.5:c.*280G= ENSP00000219596.1:n.*280G=
ENST00000339854.8:c.*280G= ENSP00000339639.4:n.*280G=
ENST00000536980.5:c.*902G= ENSP00000444178.1:n.*902G=
ENST00000537682.5:c.*902G= ENSP00000438611.1:n.*902G=
ENST00000538326.5:c.*1251G= ENSP00000437486.1:n.*1251G=
ENST00000542898.5:c.*902G= ENSP00000444615.1:n.*902G=
NM_000243.2:c.*280G= , LRG_190t1:c.*280G= NP_000234.1:n.*280G=
NM_001198536.1:c.*830G= NP_001185465.1:n.*830G=
NM_000243.3:c.*280G= MANE Select NP_000234.1:n.*280G=
NM_001198536.2:c.*830G= NP_001185465.2:n.*830G=