Canonical Allele Identifier: CA351242

Gene: MEFV

Linked Data

• ClinVar Variation Id: 224064
• ClinVar RCV Id: RCV000209870 ; RCV001689737 ; RCV003126598 ; RCV003126599
• dbSNP Id: rs2741919
• gnomAD v2: 16-3292896-C-T
• gnomAD v3: 16-3242896-C-T
• gnomAD v4: 16-3242896-C-T
• MyVariant Identifiers: chr16:g.3292896C>T (hg19) ; chr16:g.3242896C>T (hg38)
• PubMed: PMID:9336425

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3242896C>T , CM000678.2:g.3242896C>T	GRCh38
NC_000016.9:g.3292896C>T , CM000678.1:g.3292896C>T	GRCh37
NC_000016.8:g.3232897C>T	NCBI36
NG_007871.1:g.18732G>A , LRG_190:g.18732G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1712G>A
ENST00000219596.6:c.*245G>A MANE Select	ENSP00000219596.1:n.*245G>A
ENST00000219596.5:c.*245G>A	ENSP00000219596.1:n.*245G>A
ENST00000339854.8:c.*245G>A	ENSP00000339639.4:n.*245G>A
ENST00000536980.5:c.*867G>A	ENSP00000444178.1:n.*867G>A
ENST00000537682.5:c.*867G>A	ENSP00000438611.1:n.*867G>A
ENST00000538326.5:c.*1216G>A	ENSP00000437486.1:n.*1216G>A
ENST00000542898.5:c.*867G>A	ENSP00000444615.1:n.*867G>A
NM_000243.2:c.*245G>A , LRG_190t1:c.*245G>A	NP_000234.1:n.*245G>A
NM_001198536.1:c.*795G>A	NP_001185465.1:n.*795G>A
NM_000243.3:c.*245G>A MANE Select	NP_000234.1:n.*245G>A
NM_001198536.2:c.*795G>A	NP_001185465.2:n.*795G>A