Canonical Allele Identifier: CA2631333199

Gene: MEFV

Linked Data

• gnomAD v4: 16-3243024-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243024A>G , CM000678.2:g.3243024A>G	GRCh38
NC_000016.9:g.3293024A>G , CM000678.1:g.3293024A>G	GRCh37
NC_000016.8:g.3233025A>G	NCBI36
NG_007871.1:g.18604T>C , LRG_190:g.18604T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1584T>C
ENST00000219596.6:c.*117T>C MANE Select	ENSP00000219596.1:n.*117T>C
ENST00000219596.5:c.*117T>C	ENSP00000219596.1:n.*117T>C
ENST00000339854.8:c.*117T>C	ENSP00000339639.4:n.*117T>C
ENST00000536980.5:c.*739T>C	ENSP00000444178.1:n.*739T>C
ENST00000537682.5:c.*739T>C	ENSP00000438611.1:n.*739T>C
ENST00000538326.5:c.*1088T>C	ENSP00000437486.1:n.*1088T>C
ENST00000542898.5:c.*739T>C	ENSP00000444615.1:n.*739T>C
NM_000243.2:c.*117T>C , LRG_190t1:c.*117T>C	NP_000234.1:n.*117T>C
NM_001198536.1:c.*667T>C	NP_001185465.1:n.*667T>C
NM_000243.3:c.*117T>C MANE Select	NP_000234.1:n.*117T>C
NM_001198536.2:c.*667T>C	NP_001185465.2:n.*667T>C