Canonical Allele Identifier: CA7859840

Gene: MEFV

Linked Data

• ClinVar Variation Id: 378133
• ClinVar RCV Id: RCV000429125 ; RCV000989470 ; RCV001000190 ; RCV002263677
• dbSNP Id: rs142352887
• ExAC: 16:3293195 C / A
• gnomAD v2: 16-3293195-C-A
• gnomAD v3: 16-3243195-C-A
• gnomAD v4: 16-3243195-C-A
• MyVariant Identifiers: chr16:g.3293195C>A (hg19) ; chr16:g.3243195C>A (hg38)

Genomic Alleles

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

Transcript Alleles

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