Canonical Allele Identifier: CA2202658505
Gene: MEFV HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3243139A= , CM000678.2:g.3243139A= GRCh38
NC_000016.9:g.3293139A= , CM000678.1:g.3293139A= GRCh37
NC_000016.8:g.3233140A= NCBI36
NG_007871.1:g.18489T= , LRG_190:g.18489T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000697124.1:n.1469T=
ENST00000219596.6:c.*2T= MANE Select ENSP00000219596.1:n.*2T=
ENST00000219596.5:c.*2T= ENSP00000219596.1:n.*2T=
ENST00000339854.8:c.*2T= ENSP00000339639.4:n.*2T=
ENST00000536980.5:c.*624T= ENSP00000444178.1:n.*624T=
ENST00000537682.5:c.*624T= ENSP00000438611.1:n.*624T=
ENST00000538326.5:c.*973T= ENSP00000437486.1:n.*973T=
ENST00000542898.5:c.*624T= ENSP00000444615.1:n.*624T=
NM_000243.2:c.*2T= , LRG_190t1:c.*2T= NP_000234.1:n.*2T=
NM_001198536.1:c.*552T= NP_001185465.1:n.*552T=
XM_017023236.2:c.*2T= XP_016878725.1:n.*2T=
NM_000243.3:c.*2T= MANE Select NP_000234.1:n.*2T=
NM_001198536.2:c.*552T= NP_001185465.2:n.*552T=