Canonical Allele Identifier: CA7860112

Gene: MEFV

Linked Data

• ClinVar Variation Id: 457996
• ClinVar RCV Id: RCV000530643 ; RCV001775848 ; RCV002263738 ; RCV002490968 ; RCV003126802 ; RCV003126801
• dbSNP Id: rs190705322
• ExAC: 16:3297095 G / C
• gnomAD v2: 16-3297095-G-C
• gnomAD v3: 16-3247095-G-C
• gnomAD v4: 16-3247095-G-C
• MyVariant Identifiers: chr16:g.3297095G>C (hg19) ; chr16:g.3247095G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3247095G>C , CM000678.2:g.3247095G>C	GRCh38
NC_000016.9:g.3297095G>C , CM000678.1:g.3297095G>C	GRCh37
NC_000016.8:g.3237096G>C	NCBI36
NG_007871.1:g.14533C>G , LRG_190:g.14533C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219596.6:c.1508C>G MANE Select	ENSP00000219596.1:p.Ser503Cys
ENST00000219596.5:c.1508C>G	ENSP00000219596.1:p.Ser503Cys
ENST00000339854.8:c.968C>G	ENSP00000339639.4:p.Ser323Cys
ENST00000536379.5:c.875C>G	ENSP00000445079.1:p.Ser292Cys
ENST00000536980.5:c.875C>G	ENSP00000444178.1:p.Ser292Cys
ENST00000537682.5:c.1508C>G	ENSP00000438611.1:p.Ser503Cys
ENST00000538326.5:c.*133C>G	ENSP00000437486.1:n.*133C>G
ENST00000539145.5:c.429C>G	ENSP00000444471.1:n.429C>G
ENST00000539154.1:n.873C>G
ENST00000541159.5:c.875C>G	ENSP00000438711.1:p.Ser292Cys
ENST00000542898.5:c.1601C>G	ENSP00000444615.1:p.Ser534Cys
ENST00000570511.5:c.1062C>G	ENSP00000458312.1:n.1062C>G
ENST00000572244.5:c.278-548C>G	ENSP00000461186.1:n.278-548C>G
ENST00000574583.5:c.429C>G	ENSP00000460269.1:n.429C>G
ENST00000576315.5:c.429C>G	ENSP00000460551.1:n.429C>G
ENST00000621655.1:c.875C>G	ENSP00000481436.1:p.Ser292Cys
NM_000243.2:c.1508C>G , LRG_190t1:c.1508C>G	NP_000234.1:p.Ser503Cys
NM_001198536.1:c.875C>G	NP_001185465.1:p.Ser292Cys
XM_017023236.2:c.1505C>G	XP_016878725.1:p.Ser502Cys
XR_001751903.1:n.1697C>G
NM_000243.3:c.1508C>G MANE Select	NP_000234.1:p.Ser503Cys
NM_001198536.2:c.875C>G	NP_001185465.2:p.Ser292Cys