Canonical Allele Identifier: CA493383781

Gene: MEFV

Linked Data

• ClinVar Variation Id: 1617907
• ClinVar RCV Id: RCV002093781
• dbSNP Id: rs1280040143
• gnomAD v2: 16-3293456-T-C
• gnomAD v3: 16-3243456-T-C
• gnomAD v4: 16-3243456-T-C
• MyVariant Identifiers: chr16:g.3293456T>C (hg19) ; chr16:g.3243456T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243456T>C , CM000678.2:g.3243456T>C	GRCh38
NC_000016.9:g.3293456T>C , CM000678.1:g.3293456T>C	GRCh37
NC_000016.8:g.3233457T>C	NCBI36
NG_007871.1:g.18172A>G , LRG_190:g.18172A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000697124.1:n.1152A>G
ENST00000219596.6:c.2031A>G MANE Select	ENSP00000219596.1:p.Lys677=
ENST00000219596.5:c.2031A>G	ENSP00000219596.1:p.Lys677=
ENST00000339854.8:c.1491A>G	ENSP00000339639.4:p.Lys497=
ENST00000536379.5:c.1398A>G	ENSP00000445079.1:p.Lys466=
ENST00000536980.5:c.*307A>G	ENSP00000444178.1:n.*307A>G
ENST00000537682.5:c.*307A>G	ENSP00000438611.1:n.*307A>G
ENST00000538326.5:c.*656A>G	ENSP00000437486.1:n.*656A>G
ENST00000539145.5:c.952A>G	ENSP00000444471.1:n.952A>G
ENST00000541159.5:c.1573A>G	ENSP00000438711.1:n.1573A>G
ENST00000542898.5:c.*307A>G	ENSP00000444615.1:n.*307A>G
ENST00000570511.5:c.1436A>G	ENSP00000458312.1:n.1436A>G
ENST00000572244.5:c.721A>G	ENSP00000461186.1:n.721A>G
ENST00000574583.5:c.803A>G	ENSP00000460269.1:n.803A>G
ENST00000576315.5:c.836A>G	ENSP00000460551.1:n.836A>G
ENST00000621655.1:c.1568A>G	ENSP00000481436.1:n.1568A>G
NM_000243.2:c.2031A>G , LRG_190t1:c.2031A>G	NP_000234.1:p.Lys677=
NM_001198536.1:c.*235A>G	NP_001185465.1:n.*235A>G
XM_017023236.2:c.2028A>G	XP_016878725.1:p.Lys676=
NM_000243.3:c.2031A>G MANE Select	NP_000234.1:p.Lys677=
NM_001198536.2:c.*235A>G	NP_001185465.2:n.*235A>G