Canonical Allele Identifier: CA7860122

Gene: MEFV

Linked Data

• ClinVar Variation Id: 378132
• ClinVar RCV Id: RCV000439116 ; RCV000531412 ; RCV001712195 ; RCV002263676 ; RCV003150813
• dbSNP Id: rs104895100
• ExAC: 16:3297144 C / G
• gnomAD v2: 16-3297144-C-G
• gnomAD v3: 16-3247144-C-G
• gnomAD v4: 16-3247144-C-G
• MyVariant Identifiers: chr16:g.3297144C>G (hg19) ; chr16:g.3247144C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3247144C>G , CM000678.2:g.3247144C>G	GRCh38
NC_000016.9:g.3297144C>G , CM000678.1:g.3297144C>G	GRCh37
NC_000016.8:g.3237145C>G	NCBI36
NG_007871.1:g.14484G>C , LRG_190:g.14484G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219596.6:c.1459G>C MANE Select	ENSP00000219596.1:p.Val487Leu
ENST00000219596.5:c.1459G>C	ENSP00000219596.1:p.Val487Leu
ENST00000339854.8:c.919G>C	ENSP00000339639.4:p.Val307Leu
ENST00000536379.5:c.826G>C	ENSP00000445079.1:p.Val276Leu
ENST00000536980.5:c.826G>C	ENSP00000444178.1:p.Val276Leu
ENST00000537682.5:c.1459G>C	ENSP00000438611.1:p.Val487Leu
ENST00000538326.5:c.*84G>C	ENSP00000437486.1:n.*84G>C
ENST00000539145.5:c.380G>C	ENSP00000444471.1:n.380G>C
ENST00000539154.1:n.824G>C
ENST00000541159.5:c.826G>C	ENSP00000438711.1:p.Val276Leu
ENST00000542898.5:c.1552G>C	ENSP00000444615.1:p.Val518Leu
ENST00000570511.5:c.1013G>C	ENSP00000458312.1:n.1013G>C
ENST00000572244.5:c.278-597G>C	ENSP00000461186.1:n.278-597G>C
ENST00000574583.5:c.380G>C	ENSP00000460269.1:n.380G>C
ENST00000576315.5:c.380G>C	ENSP00000460551.1:n.380G>C
ENST00000621655.1:c.826G>C	ENSP00000481436.1:p.Val276Leu
NM_000243.2:c.1459G>C , LRG_190t1:c.1459G>C	NP_000234.1:p.Val487Leu
NM_001198536.1:c.826G>C	NP_001185465.1:p.Val276Leu
XM_017023236.2:c.1456G>C	XP_016878725.1:p.Val486Leu
XR_001751903.1:n.1648G>C
NM_000243.3:c.1459G>C MANE Select	NP_000234.1:p.Val487Leu
NM_001198536.2:c.826G>C	NP_001185465.2:p.Val276Leu