Canonical Allele Identifier: CA620713323

Gene: MEFV

Linked Data

• ClinVar Variation Id: 650911
• ClinVar RCV Id: RCV000806158
• dbSNP Id: rs1301893365
• gnomAD v2: 16-3304183-A-AG
• gnomAD v3: 16-3254183-A-AG
• gnomAD v4: 16-3254183-A-AG
• MyVariant Identifiers: chr16:g.3304183_3304184insG (hg19) ; chr16:g.3254183_3254184insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3254186dup , CM000678.2:g.3254186dup	GRCh38
NC_000016.9:g.3304186dup , CM000678.1:g.3304186dup	GRCh37
NC_000016.8:g.3244187dup	NCBI36
NG_007871.1:g.7444dup , LRG_190:g.7444dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000219596.6:c.884dup MANE Select	ENSP00000219596.1:p.Gly296TrpfsTer29
ENST00000219596.5:c.884dup	ENSP00000219596.1:p.Gly296TrpfsTer29
ENST00000339854.8:c.277+2127dup	ENSP00000339639.4:n.277+2127dup
ENST00000536379.5:c.277+2127dup	ENSP00000445079.1:n.277+2127dup
ENST00000536980.5:c.277+2127dup	ENSP00000444178.1:n.277+2127dup
ENST00000537682.5:c.884dup	ENSP00000438611.1:p.Gly296TrpfsTer29
ENST00000538326.5:c.884dup	ENSP00000437486.1:p.Gly296TrpfsTer29
ENST00000539145.5:c.277+2127dup	ENSP00000444471.1:n.277+2127dup
ENST00000541159.5:c.277+2127dup	ENSP00000438711.1:n.277+2127dup
ENST00000542898.5:c.884dup	ENSP00000444615.1:p.Gly296TrpfsTer?
ENST00000570511.5:c.884dup	ENSP00000458312.1:p.Gly296TrpfsTer15
ENST00000572244.5:c.277+2127dup	ENSP00000461186.1:n.277+2127dup
ENST00000574583.5:c.277+2127dup	ENSP00000460269.1:n.277+2127dup
ENST00000576315.5:c.277+2127dup	ENSP00000460551.1:n.277+2127dup
ENST00000621655.1:c.277+2127dup	ENSP00000481436.1:n.277+2127dup
NM_000243.2:c.884dup , LRG_190t1:c.884dup	NP_000234.1:p.Gly296TrpfsTer29
NM_001198536.1:c.277+2127dup	NP_001185465.1:n.277+2127dup
XM_017023236.2:c.884dup	XP_016878725.1:p.Gly296TrpfsTer29
XR_001751903.1:n.1073dup
NM_000243.3:c.884dup MANE Select	NP_000234.1:p.Gly296TrpfsTer29
NM_001198536.2:c.277+2127dup	NP_001185465.2:n.277+2127dup