Canonical Allele Identifier: CA720024633

Gene: MEFV

Linked Data

• ClinVar Variation Id: 1406503
• ClinVar RCV Id: RCV001935450 ; RCV003223738
• dbSNP Id: rs1242998026
• gnomAD v3: 16-3243441-C-CA
• gnomAD v4: 16-3243441-C-CA
• MyVariant Identifiers: chr16:g.3293441_3293442insA (hg19) ; chr16:g.3243441_3243442insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243442dup , CM000678.2:g.3243442dup	GRCh38
NC_000016.9:g.3293442dup , CM000678.1:g.3293442dup	GRCh37
NC_000016.8:g.3233443dup	NCBI36
NG_007871.1:g.18186dup , LRG_190:g.18186dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1166dup
ENST00000219596.6:c.2045dup MANE Select	ENSP00000219596.1:p.Ser683ValfsTer16
ENST00000219596.5:c.2045dup	ENSP00000219596.1:p.Ser683ValfsTer16
ENST00000339854.8:c.1505dup	ENSP00000339639.4:p.Ser503ValfsTer16
ENST00000536379.5:c.1412dup	ENSP00000445079.1:p.Ser472ValfsTer16
ENST00000536980.5:c.*321dup	ENSP00000444178.1:n.*321dup
ENST00000537682.5:c.*321dup	ENSP00000438611.1:n.*321dup
ENST00000538326.5:c.*670dup	ENSP00000437486.1:n.*670dup
ENST00000539145.5:c.966dup	ENSP00000444471.1:n.966dup
ENST00000541159.5:c.1587dup	ENSP00000438711.1:n.1587dup
ENST00000542898.5:c.*321dup	ENSP00000444615.1:n.*321dup
ENST00000570511.5:c.1450dup	ENSP00000458312.1:n.1450dup
ENST00000572244.5:c.735dup	ENSP00000461186.1:n.735dup
ENST00000574583.5:c.817dup	ENSP00000460269.1:n.817dup
ENST00000576315.5:c.850dup	ENSP00000460551.1:n.850dup
ENST00000621655.1:c.1582dup	ENSP00000481436.1:n.1582dup
NM_000243.2:c.2045dup , LRG_190t1:c.2045dup	NP_000234.1:p.Ser683ValfsTer16
NM_001198536.1:c.*249dup	NP_001185465.1:n.*249dup
XM_017023236.2:c.2042dup	XP_016878725.1:p.Ser682ValfsTer16
NM_000243.3:c.2045dup MANE Select	NP_000234.1:p.Ser683ValfsTer16
NM_001198536.2:c.*249dup	NP_001185465.2:n.*249dup