Canonical Allele Identifier: CA973875030

Gene: MEFV

Linked Data

• dbSNP Id: rs1958878182
• gnomAD v3: 16-3242908-T-C
• gnomAD v4: 16-3242908-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3242908T>C , CM000678.2:g.3242908T>C	GRCh38
NC_000016.9:g.3292908T>C , CM000678.1:g.3292908T>C	GRCh37
NC_000016.8:g.3232909T>C	NCBI36
NG_007871.1:g.18720A>G , LRG_190:g.18720A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1700A>G
ENST00000219596.6:c.*233A>G MANE Select	ENSP00000219596.1:n.*233A>G
ENST00000219596.5:c.*233A>G	ENSP00000219596.1:n.*233A>G
ENST00000339854.8:c.*233A>G	ENSP00000339639.4:n.*233A>G
ENST00000536980.5:c.*855A>G	ENSP00000444178.1:n.*855A>G
ENST00000537682.5:c.*855A>G	ENSP00000438611.1:n.*855A>G
ENST00000538326.5:c.*1204A>G	ENSP00000437486.1:n.*1204A>G
ENST00000542898.5:c.*855A>G	ENSP00000444615.1:n.*855A>G
NM_000243.2:c.*233A>G , LRG_190t1:c.*233A>G	NP_000234.1:n.*233A>G
NM_001198536.1:c.*783A>G	NP_001185465.1:n.*783A>G
NM_000243.3:c.*233A>G MANE Select	NP_000234.1:n.*233A>G
NM_001198536.2:c.*783A>G	NP_001185465.2:n.*783A>G