Canonical Allele Identifier: CA7859833
Gene: MEFV HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.3243132G>A
GRCh37 chr16:g.3293132G>A
gnomAD v2:
16:3293132 G / A
gnomAD v3:
16:3243132 G / A
gnomAD v4:
chr16-3243132-G-A
Joint Max Group AF 0.02114465 (AFR)
Genomes Max Group AF 0.0205769 (AFR)
Exomes Max Group AF 0.02104255 (AFR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3243132G>A , CM000678.2:g.3243132G>A GRCh38
NC_000016.9:g.3293132G>A , CM000678.1:g.3293132G>A GRCh37
NC_000016.8:g.3233133G>A NCBI36
NG_007871.1:g.18496C>T , LRG_190:g.18496C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000697124.1:n.1476C>T
ENST00000219596.6:c.*9C>T MANE Select ENSP00000219596.1:n.*9C>T
ENST00000219596.5:c.*9C>T ENSP00000219596.1:n.*9C>T
ENST00000339854.8:c.*9C>T ENSP00000339639.4:n.*9C>T
ENST00000536980.5:c.*631C>T ENSP00000444178.1:n.*631C>T
ENST00000537682.5:c.*631C>T ENSP00000438611.1:n.*631C>T
ENST00000538326.5:c.*980C>T ENSP00000437486.1:n.*980C>T
ENST00000542898.5:c.*631C>T ENSP00000444615.1:n.*631C>T
NM_000243.2:c.*9C>T , LRG_190t1:c.*9C>T NP_000234.1:n.*9C>T
NM_001198536.1:c.*559C>T NP_001185465.1:n.*559C>T
XM_017023236.2:c.*9C>T XP_016878725.1:n.*9C>T
NM_000243.3:c.*9C>T MANE Select NP_000234.1:n.*9C>T
NM_001198536.2:c.*559C>T NP_001185465.2:n.*559C>T
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