Canonical Allele Identifier: CA2202658359
Gene: MEFV HGNC NCBI

Linked Data

dbSNP Id: rs2741918
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3242874C>G , CM000678.2:g.3242874C>G GRCh38
NC_000016.9:g.3292874C>G , CM000678.1:g.3292874C>G GRCh37
NC_000016.8:g.3232875C>G NCBI36
NG_007871.1:g.18754G>C , LRG_190:g.18754G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000697124.1:n.1734G>C
ENST00000219596.6:c.*267G>C MANE Select ENSP00000219596.1:n.*267G>C
ENST00000219596.5:c.*267G>C ENSP00000219596.1:n.*267G>C
ENST00000339854.8:c.*267G>C ENSP00000339639.4:n.*267G>C
ENST00000536980.5:c.*889G>C ENSP00000444178.1:n.*889G>C
ENST00000537682.5:c.*889G>C ENSP00000438611.1:n.*889G>C
ENST00000538326.5:c.*1238G>C ENSP00000437486.1:n.*1238G>C
ENST00000542898.5:c.*889G>C ENSP00000444615.1:n.*889G>C
NM_000243.2:c.*267G>C , LRG_190t1:c.*267G>C NP_000234.1:n.*267G>C
NM_001198536.1:c.*817G>C NP_001185465.1:n.*817G>C
NM_000243.3:c.*267G>C MANE Select NP_000234.1:n.*267G>C
NM_001198536.2:c.*817G>C NP_001185465.2:n.*817G>C
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