Canonical Allele Identifier: CA10648332
Gene: MEFV HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.3243067G>A
GRCh37 chr16:g.3293067G>A
gnomAD v2:
16:3293067 G / A
gnomAD v3:
16:3243067 G / A
gnomAD v4:
chr16-3243067-G-A
Joint Max Group AF 0.01087281 (AFR)
Genomes Max Group AF 0.01056767 (AFR)
Exomes Max Group AF 0.01066937 (AFR)
ClinVar RCV:
RCV000277511
RCV001561500
ClinVar Variation:
319106
dbSNP:
11466050
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3243067G>A , CM000678.2:g.3243067G>A GRCh38
NC_000016.9:g.3293067G>A , CM000678.1:g.3293067G>A GRCh37
NC_000016.8:g.3233068G>A NCBI36
NG_007871.1:g.18561C>T , LRG_190:g.18561C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000697124.1:n.1541C>T
ENST00000219596.6:c.*74C>T MANE Select ENSP00000219596.1:n.*74C>T
ENST00000219596.5:c.*74C>T ENSP00000219596.1:n.*74C>T
ENST00000339854.8:c.*74C>T ENSP00000339639.4:n.*74C>T
ENST00000536980.5:c.*696C>T ENSP00000444178.1:n.*696C>T
ENST00000537682.5:c.*696C>T ENSP00000438611.1:n.*696C>T
ENST00000538326.5:c.*1045C>T ENSP00000437486.1:n.*1045C>T
ENST00000542898.5:c.*696C>T ENSP00000444615.1:n.*696C>T
NM_000243.2:c.*74C>T , LRG_190t1:c.*74C>T NP_000234.1:n.*74C>T
NM_001198536.1:c.*624C>T NP_001185465.1:n.*624C>T
NM_000243.3:c.*74C>T MANE Select NP_000234.1:n.*74C>T
NM_001198536.2:c.*624C>T NP_001185465.2:n.*624C>T
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