Canonical Allele Identifier: CA280099

Gene: MEFV

Linked Data

• ClinVar Variation Id: 2543
• ClinVar RCV Id: RCV000002652 ; RCV000588525 ; RCV001262294 ; RCV002262543 ; RCV003230342
• dbSNP Id: rs104895079
• ExAC: 16:3304567 C / G
• gnomAD v2: 16-3304567-C-G
• gnomAD v3: 16-3254567-C-G
• gnomAD v4: 16-3254567-C-G
• MyVariant Identifiers: chr16:g.3304567C>G (hg19) ; chr16:g.3254567C>G (hg38)
• PubMed: PMID:9668175 ; PMID:10090880 ; PMID:10364520 ; PMID:10737992 ; PMID:10842288 ; PMID:12180071 ; PMID:15024744 ; PMID:17489852 ; PMID:19026119 ; PMID:19863562 ; PMID:22614345 ; PMID:24469716 ; PMID:25393764 ; PMID:26003477 ; PMID:26247045

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3254567C>G , CM000678.2:g.3254567C>G	GRCh38
NC_000016.9:g.3304567C>G , CM000678.1:g.3304567C>G	GRCh37
NC_000016.8:g.3244568C>G	NCBI36
NG_007871.1:g.7061G>C , LRG_190:g.7061G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219596.6:c.501G>C MANE Select	ENSP00000219596.1:p.Glu167Asp
ENST00000219596.5:c.501G>C	ENSP00000219596.1:p.Glu167Asp
ENST00000339854.8:c.277+1744G>C	ENSP00000339639.4:n.277+1744G>C
ENST00000536379.5:c.277+1744G>C	ENSP00000445079.1:n.277+1744G>C
ENST00000536980.5:c.277+1744G>C	ENSP00000444178.1:n.277+1744G>C
ENST00000537682.5:c.501G>C	ENSP00000438611.1:p.Glu167Asp
ENST00000538326.5:c.501G>C	ENSP00000437486.1:p.Glu167Asp
ENST00000539145.5:c.277+1744G>C	ENSP00000444471.1:n.277+1744G>C
ENST00000541159.5:c.277+1744G>C	ENSP00000438711.1:n.277+1744G>C
ENST00000542898.5:c.501G>C	ENSP00000444615.1:p.Glu167Asp
ENST00000570511.5:c.501G>C	ENSP00000458312.1:p.Glu167Asp
ENST00000572244.5:c.277+1744G>C	ENSP00000461186.1:n.277+1744G>C
ENST00000574583.5:c.277+1744G>C	ENSP00000460269.1:n.277+1744G>C
ENST00000576315.5:c.277+1744G>C	ENSP00000460551.1:n.277+1744G>C
ENST00000621655.1:c.277+1744G>C	ENSP00000481436.1:n.277+1744G>C
NM_000243.2:c.501G>C , LRG_190t1:c.501G>C	NP_000234.1:p.Glu167Asp
NM_001198536.1:c.277+1744G>C	NP_001185465.1:n.277+1744G>C
XM_017023236.2:c.501G>C	XP_016878725.1:p.Glu167Asp
XR_001751903.1:n.690G>C
NM_000243.3:c.501G>C MANE Select	NP_000234.1:p.Glu167Asp
NM_001198536.2:c.277+1744G>C	NP_001185465.2:n.277+1744G>C