Canonical Allele Identifier: CA2631332954

Gene: MEFV

Linked Data

• gnomAD v4: 16-3242916-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3242916T>G , CM000678.2:g.3242916T>G	GRCh38
NC_000016.9:g.3292916T>G , CM000678.1:g.3292916T>G	GRCh37
NC_000016.8:g.3232917T>G	NCBI36
NG_007871.1:g.18712A>C , LRG_190:g.18712A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1692A>C
ENST00000219596.6:c.*225A>C MANE Select	ENSP00000219596.1:n.*225A>C
ENST00000219596.5:c.*225A>C	ENSP00000219596.1:n.*225A>C
ENST00000339854.8:c.*225A>C	ENSP00000339639.4:n.*225A>C
ENST00000536980.5:c.*847A>C	ENSP00000444178.1:n.*847A>C
ENST00000537682.5:c.*847A>C	ENSP00000438611.1:n.*847A>C
ENST00000538326.5:c.*1196A>C	ENSP00000437486.1:n.*1196A>C
ENST00000542898.5:c.*847A>C	ENSP00000444615.1:n.*847A>C
NM_000243.2:c.*225A>C , LRG_190t1:c.*225A>C	NP_000234.1:n.*225A>C
NM_001198536.1:c.*775A>C	NP_001185465.1:n.*775A>C
NM_000243.3:c.*225A>C MANE Select	NP_000234.1:n.*225A>C
NM_001198536.2:c.*775A>C	NP_001185465.2:n.*775A>C