Canonical Allele Identifier: CA394485521

Gene: MEFV

Linked Data

• ClinVar Variation Id: 2011491
• ClinVar RCV Id: RCV002829546
• MyVariant Identifiers: chr16:g.3293310A>C (hg19) ; chr16:g.3243310A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243310A>C , CM000678.2:g.3243310A>C	GRCh38
NC_000016.9:g.3293310A>C , CM000678.1:g.3293310A>C	GRCh37
NC_000016.8:g.3233311A>C	NCBI36
NG_007871.1:g.18318T>G , LRG_190:g.18318T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000697124.1:n.1298T>G
ENST00000219596.6:c.2177T>G MANE Select	ENSP00000219596.1:p.Val726Gly
ENST00000219596.5:c.2177T>G	ENSP00000219596.1:p.Val726Gly
ENST00000339854.8:c.1637T>G	ENSP00000339639.4:p.Val546Gly
ENST00000536379.5:c.1544T>G	ENSP00000445079.1:p.Val515Gly
ENST00000536980.5:c.*453T>G	ENSP00000444178.1:n.*453T>G
ENST00000537682.5:c.*453T>G	ENSP00000438611.1:n.*453T>G
ENST00000538326.5:c.*802T>G	ENSP00000437486.1:n.*802T>G
ENST00000539145.5:c.1098T>G	ENSP00000444471.1:n.1098T>G
ENST00000541159.5:c.1719T>G	ENSP00000438711.1:n.1719T>G
ENST00000542898.5:c.*453T>G	ENSP00000444615.1:n.*453T>G
ENST00000570511.5:c.1582T>G	ENSP00000458312.1:n.1582T>G
ENST00000572244.5:c.867T>G	ENSP00000461186.1:n.867T>G
ENST00000574583.5:c.949T>G	ENSP00000460269.1:n.949T>G
ENST00000576315.5:c.982T>G	ENSP00000460551.1:n.982T>G
ENST00000621655.1:c.1714T>G	ENSP00000481436.1:n.1714T>G
NM_000243.2:c.2177T>G , LRG_190t1:c.2177T>G	NP_000234.1:p.Val726Gly
NM_001198536.1:c.*381T>G	NP_001185465.1:n.*381T>G
XM_017023236.2:c.2174T>G	XP_016878725.1:p.Val725Gly
NM_000243.3:c.2177T>G MANE Select	NP_000234.1:p.Val726Gly
NM_001198536.2:c.*381T>G	NP_001185465.2:n.*381T>G