Canonical Allele Identifier: CA2631332950
Gene: MEFV HGNC NCBI

Linked Data

gnomAD v4: 16-3242912-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3242912C>T , CM000678.2:g.3242912C>T GRCh38
NC_000016.9:g.3292912C>T , CM000678.1:g.3292912C>T GRCh37
NC_000016.8:g.3232913C>T NCBI36
NG_007871.1:g.18716G>A , LRG_190:g.18716G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000697124.1:n.1696G>A
ENST00000219596.6:c.*229G>A MANE Select ENSP00000219596.1:n.*229G>A
ENST00000219596.5:c.*229G>A ENSP00000219596.1:n.*229G>A
ENST00000339854.8:c.*229G>A ENSP00000339639.4:n.*229G>A
ENST00000536980.5:c.*851G>A ENSP00000444178.1:n.*851G>A
ENST00000537682.5:c.*851G>A ENSP00000438611.1:n.*851G>A
ENST00000538326.5:c.*1200G>A ENSP00000437486.1:n.*1200G>A
ENST00000542898.5:c.*851G>A ENSP00000444615.1:n.*851G>A
NM_000243.2:c.*229G>A , LRG_190t1:c.*229G>A NP_000234.1:n.*229G>A
NM_001198536.1:c.*779G>A NP_001185465.1:n.*779G>A
NM_000243.3:c.*229G>A MANE Select NP_000234.1:n.*229G>A
NM_001198536.2:c.*779G>A NP_001185465.2:n.*779G>A
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