Canonical Allele Identifier: CA7859841

Gene: MEFV

Linked Data

• ClinVar Variation Id: 1156764
• ClinVar RCV Id: RCV001499552
• dbSNP Id: rs142352887
• ExAC: 16:3293195 C / T
• gnomAD v2: 16-3293195-C-T
• gnomAD v4: 16-3243195-C-T
• COSMIC: COSM3509362
• MyVariant Identifiers: chr16:g.3293195C>T (hg19) ; chr16:g.3243195C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243195C>T , CM000678.2:g.3243195C>T	GRCh38
NC_000016.9:g.3293195C>T , CM000678.1:g.3293195C>T	GRCh37
NC_000016.8:g.3233196C>T	NCBI36
NG_007871.1:g.18433G>A , LRG_190:g.18433G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1413G>A
ENST00000219596.6:c.2292G>A MANE Select	ENSP00000219596.1:p.Gly764=
ENST00000219596.5:c.2292G>A	ENSP00000219596.1:p.Gly764=
ENST00000339854.8:c.1752G>A	ENSP00000339639.4:p.Gly584=
ENST00000536379.5:c.1659G>A	ENSP00000445079.1:p.Gly553=
ENST00000536980.5:c.*568G>A	ENSP00000444178.1:n.*568G>A
ENST00000537682.5:c.*568G>A	ENSP00000438611.1:n.*568G>A
ENST00000538326.5:c.*917G>A	ENSP00000437486.1:n.*917G>A
ENST00000539145.5:c.1213G>A	ENSP00000444471.1:n.1213G>A
ENST00000541159.5:c.1834G>A	ENSP00000438711.1:n.1834G>A
ENST00000542898.5:c.*568G>A	ENSP00000444615.1:n.*568G>A
ENST00000570511.5:c.1697G>A	ENSP00000458312.1:n.1697G>A
ENST00000572244.5:c.982G>A	ENSP00000461186.1:n.982G>A
ENST00000574583.5:c.1064G>A	ENSP00000460269.1:n.1064G>A
ENST00000576315.5:c.1097G>A	ENSP00000460551.1:n.1097G>A
ENST00000621655.1:c.1829G>A	ENSP00000481436.1:n.1829G>A
NM_000243.2:c.2292G>A , LRG_190t1:c.2292G>A	NP_000234.1:p.Gly764=
NM_001198536.1:c.*496G>A	NP_001185465.1:n.*496G>A
XM_017023236.2:c.2289G>A	XP_016878725.1:p.Gly763=
NM_000243.3:c.2292G>A MANE Select	NP_000234.1:p.Gly764=
NM_001198536.2:c.*496G>A	NP_001185465.2:n.*496G>A