Canonical Allele Identifier: CA2631332937

Gene: MEFV

Linked Data

• gnomAD v4: 16-3242904-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3242904T>G , CM000678.2:g.3242904T>G	GRCh38
NC_000016.9:g.3292904T>G , CM000678.1:g.3292904T>G	GRCh37
NC_000016.8:g.3232905T>G	NCBI36
NG_007871.1:g.18724A>C , LRG_190:g.18724A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1704A>C
ENST00000219596.6:c.*237A>C MANE Select	ENSP00000219596.1:n.*237A>C
ENST00000219596.5:c.*237A>C	ENSP00000219596.1:n.*237A>C
ENST00000339854.8:c.*237A>C	ENSP00000339639.4:n.*237A>C
ENST00000536980.5:c.*859A>C	ENSP00000444178.1:n.*859A>C
ENST00000537682.5:c.*859A>C	ENSP00000438611.1:n.*859A>C
ENST00000538326.5:c.*1208A>C	ENSP00000437486.1:n.*1208A>C
ENST00000542898.5:c.*859A>C	ENSP00000444615.1:n.*859A>C
NM_000243.2:c.*237A>C , LRG_190t1:c.*237A>C	NP_000234.1:n.*237A>C
NM_001198536.1:c.*787A>C	NP_001185465.1:n.*787A>C
NM_000243.3:c.*237A>C MANE Select	NP_000234.1:n.*237A>C
NM_001198536.2:c.*787A>C	NP_001185465.2:n.*787A>C