Canonical Allele Identifier: CA276954770

Gene: MEFV

Linked Data

• ClinVar Variation Id: 885841
• ClinVar RCV Id: RCV001117675 ; RCV001564541
• dbSNP Id: rs114930858
• gnomAD v2: 16-3292951-C-G
• gnomAD v3: 16-3242951-C-G
• gnomAD v4: 16-3242951-C-G
• MyVariant Identifiers: chr16:g.3292951C>G (hg19) ; chr16:g.3242951C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3242951C>G , CM000678.2:g.3242951C>G	GRCh38
NC_000016.9:g.3292951C>G , CM000678.1:g.3292951C>G	GRCh37
NC_000016.8:g.3232952C>G	NCBI36
NG_007871.1:g.18677G>C , LRG_190:g.18677G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1657G>C
ENST00000219596.6:c.*190G>C MANE Select	ENSP00000219596.1:n.*190G>C
ENST00000219596.5:c.*190G>C	ENSP00000219596.1:n.*190G>C
ENST00000339854.8:c.*190G>C	ENSP00000339639.4:n.*190G>C
ENST00000536980.5:c.*812G>C	ENSP00000444178.1:n.*812G>C
ENST00000537682.5:c.*812G>C	ENSP00000438611.1:n.*812G>C
ENST00000538326.5:c.*1161G>C	ENSP00000437486.1:n.*1161G>C
ENST00000542898.5:c.*812G>C	ENSP00000444615.1:n.*812G>C
NM_000243.2:c.*190G>C , LRG_190t1:c.*190G>C	NP_000234.1:n.*190G>C
NM_001198536.1:c.*740G>C	NP_001185465.1:n.*740G>C
NM_000243.3:c.*190G>C MANE Select	NP_000234.1:n.*190G>C
NM_001198536.2:c.*740G>C	NP_001185465.2:n.*740G>C