Canonical Allele Identifier: CA2631332858
Gene: MEFV HGNC NCBI

Linked Data

gnomAD v4: 16-3242892-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3242892G>T , CM000678.2:g.3242892G>T GRCh38
NC_000016.9:g.3292892G>T , CM000678.1:g.3292892G>T GRCh37
NC_000016.8:g.3232893G>T NCBI36
NG_007871.1:g.18736C>A , LRG_190:g.18736C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000697124.1:n.1716C>A
ENST00000219596.6:c.*249C>A MANE Select ENSP00000219596.1:n.*249C>A
ENST00000219596.5:c.*249C>A ENSP00000219596.1:n.*249C>A
ENST00000339854.8:c.*249C>A ENSP00000339639.4:n.*249C>A
ENST00000536980.5:c.*871C>A ENSP00000444178.1:n.*871C>A
ENST00000537682.5:c.*871C>A ENSP00000438611.1:n.*871C>A
ENST00000538326.5:c.*1220C>A ENSP00000437486.1:n.*1220C>A
ENST00000542898.5:c.*871C>A ENSP00000444615.1:n.*871C>A
NM_000243.2:c.*249C>A , LRG_190t1:c.*249C>A NP_000234.1:n.*249C>A
NM_001198536.1:c.*799C>A NP_001185465.1:n.*799C>A
NM_000243.3:c.*249C>A MANE Select NP_000234.1:n.*249C>A
NM_001198536.2:c.*799C>A NP_001185465.2:n.*799C>A
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