Canonical Allele Identifier: CA493384191

Gene: MEFV

Linked Data

• ClinVar Variation Id: 1172843
• ClinVar RCV Id: RCV001526886 ; RCV002568852
• dbSNP Id: rs2141676964
• MyVariant Identifiers: chr16:g.3304369C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3254369C>T , CM000678.2:g.3254369C>T	GRCh38
NC_000016.9:g.3304369C>T , CM000678.1:g.3304369C>T	GRCh37
NC_000016.8:g.3244370C>T	NCBI36
NG_007871.1:g.7259G>A , LRG_190:g.7259G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219596.6:c.699G>A MANE Select	ENSP00000219596.1:p.Leu233=
ENST00000219596.5:c.699G>A	ENSP00000219596.1:p.Leu233=
ENST00000339854.8:c.277+1942G>A	ENSP00000339639.4:n.277+1942G>A
ENST00000536379.5:c.277+1942G>A	ENSP00000445079.1:n.277+1942G>A
ENST00000536980.5:c.277+1942G>A	ENSP00000444178.1:n.277+1942G>A
ENST00000537682.5:c.699G>A	ENSP00000438611.1:p.Leu233=
ENST00000538326.5:c.699G>A	ENSP00000437486.1:p.Leu233=
ENST00000539145.5:c.277+1942G>A	ENSP00000444471.1:n.277+1942G>A
ENST00000541159.5:c.277+1942G>A	ENSP00000438711.1:n.277+1942G>A
ENST00000542898.5:c.699G>A	ENSP00000444615.1:p.Leu233=
ENST00000570511.5:c.699G>A	ENSP00000458312.1:p.Leu233=
ENST00000572244.5:c.277+1942G>A	ENSP00000461186.1:n.277+1942G>A
ENST00000574583.5:c.277+1942G>A	ENSP00000460269.1:n.277+1942G>A
ENST00000576315.5:c.277+1942G>A	ENSP00000460551.1:n.277+1942G>A
ENST00000621655.1:c.277+1942G>A	ENSP00000481436.1:n.277+1942G>A
NM_000243.2:c.699G>A , LRG_190t1:c.699G>A	NP_000234.1:p.Leu233=
NM_001198536.1:c.277+1942G>A	NP_001185465.1:n.277+1942G>A
XM_017023236.2:c.699G>A	XP_016878725.1:p.Leu233=
XR_001751903.1:n.888G>A
NM_000243.3:c.699G>A MANE Select	NP_000234.1:p.Leu233=
NM_001198536.2:c.277+1942G>A	NP_001185465.2:n.277+1942G>A