Canonical Allele Identifier: CA280459

Gene: MEFV

Linked Data

• ClinVar Variation Id: 97467
• ClinVar RCV Id: RCV001811392 ; RCV003224141 ; RCV003447490
• dbSNP Id: rs104895128
• ExAC: 16:3293593 C / T
• gnomAD v2: 16-3293593-C-T
• gnomAD v3: 16-3243593-C-T
• gnomAD v4: 16-3243593-C-T
• MyVariant Identifiers: chr16:g.3293593C>T (hg19) ; chr16:g.3243593C>T (hg38)
• PubMed: PMID:17938136 ; PMID:23137073 ; PMID:23633568 ; PMID:24469716 ; PMID:25286988 ; PMID:26247045

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243593C>T , CM000678.2:g.3243593C>T	GRCh38
NC_000016.9:g.3293593C>T , CM000678.1:g.3293593C>T	GRCh37
NC_000016.8:g.3233594C>T	NCBI36
NG_007871.1:g.18035G>A , LRG_190:g.18035G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000697124.1:n.1015G>A
ENST00000219596.6:c.1894G>A MANE Select	ENSP00000219596.1:p.Gly632Ser
ENST00000219596.5:c.1894G>A	ENSP00000219596.1:p.Gly632Ser
ENST00000339854.8:c.1354G>A	ENSP00000339639.4:p.Gly452Ser
ENST00000536379.5:c.1261G>A	ENSP00000445079.1:p.Gly421Ser
ENST00000536980.5:c.*170G>A	ENSP00000444178.1:n.*170G>A
ENST00000537682.5:c.*170G>A	ENSP00000438611.1:n.*170G>A
ENST00000538326.5:c.*519G>A	ENSP00000437486.1:n.*519G>A
ENST00000539145.5:c.815G>A	ENSP00000444471.1:n.815G>A
ENST00000541159.5:c.1436G>A	ENSP00000438711.1:n.1436G>A
ENST00000542898.5:c.*170G>A	ENSP00000444615.1:n.*170G>A
ENST00000570511.5:c.1299G>A	ENSP00000458312.1:n.1299G>A
ENST00000572244.5:c.584G>A	ENSP00000461186.1:n.584G>A
ENST00000574583.5:c.666G>A	ENSP00000460269.1:n.666G>A
ENST00000576315.5:c.699G>A	ENSP00000460551.1:n.699G>A
ENST00000621655.1:c.1431G>A	ENSP00000481436.1:n.1431G>A
NM_000243.2:c.1894G>A , LRG_190t1:c.1894G>A	NP_000234.1:p.Gly632Ser
NM_001198536.1:c.*98G>A	NP_001185465.1:n.*98G>A
XM_017023236.2:c.1891G>A	XP_016878725.1:p.Gly631Ser
NM_000243.3:c.1894G>A MANE Select	NP_000234.1:p.Gly632Ser
NM_001198536.2:c.*98G>A	NP_001185465.2:n.*98G>A