Canonical Allele Identifier: CA2202658454
Gene: MEFV HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3243056A= , CM000678.2:g.3243056A= GRCh38
NC_000016.9:g.3293056A= , CM000678.1:g.3293056A= GRCh37
NC_000016.8:g.3233057A= NCBI36
NG_007871.1:g.18572T= , LRG_190:g.18572T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000697124.1:n.1552T=
ENST00000219596.6:c.*85T= MANE Select ENSP00000219596.1:n.*85T=
ENST00000219596.5:c.*85T= ENSP00000219596.1:n.*85T=
ENST00000339854.8:c.*85T= ENSP00000339639.4:n.*85T=
ENST00000536980.5:c.*707T= ENSP00000444178.1:n.*707T=
ENST00000537682.5:c.*707T= ENSP00000438611.1:n.*707T=
ENST00000538326.5:c.*1056T= ENSP00000437486.1:n.*1056T=
ENST00000542898.5:c.*707T= ENSP00000444615.1:n.*707T=
NM_000243.2:c.*85T= , LRG_190t1:c.*85T= NP_000234.1:n.*85T=
NM_001198536.1:c.*635T= NP_001185465.1:n.*635T=
NM_000243.3:c.*85T= MANE Select NP_000234.1:n.*85T=
NM_001198536.2:c.*635T= NP_001185465.2:n.*635T=