Canonical Allele Identifier: CA394463695

Gene: MEFV

Linked Data

• MyVariant Identifiers: chr16:g.3297095G>T (hg19) ; chr16:g.3247095G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3247095G>T , CM000678.2:g.3247095G>T	GRCh38
NC_000016.9:g.3297095G>T , CM000678.1:g.3297095G>T	GRCh37
NC_000016.8:g.3237096G>T	NCBI36
NG_007871.1:g.14533C>A , LRG_190:g.14533C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219596.6:c.1508C>A MANE Select	ENSP00000219596.1:p.Ser503Tyr
ENST00000219596.5:c.1508C>A	ENSP00000219596.1:p.Ser503Tyr
ENST00000339854.8:c.968C>A	ENSP00000339639.4:p.Ser323Tyr
ENST00000536379.5:c.875C>A	ENSP00000445079.1:p.Ser292Tyr
ENST00000536980.5:c.875C>A	ENSP00000444178.1:p.Ser292Tyr
ENST00000537682.5:c.1508C>A	ENSP00000438611.1:p.Ser503Tyr
ENST00000538326.5:c.*133C>A	ENSP00000437486.1:n.*133C>A
ENST00000539145.5:c.429C>A	ENSP00000444471.1:n.429C>A
ENST00000539154.1:n.873C>A
ENST00000541159.5:c.875C>A	ENSP00000438711.1:p.Ser292Tyr
ENST00000542898.5:c.1601C>A	ENSP00000444615.1:p.Ser534Tyr
ENST00000570511.5:c.1062C>A	ENSP00000458312.1:n.1062C>A
ENST00000572244.5:c.278-548C>A	ENSP00000461186.1:n.278-548C>A
ENST00000574583.5:c.429C>A	ENSP00000460269.1:n.429C>A
ENST00000576315.5:c.429C>A	ENSP00000460551.1:n.429C>A
ENST00000621655.1:c.875C>A	ENSP00000481436.1:p.Ser292Tyr
NM_000243.2:c.1508C>A , LRG_190t1:c.1508C>A	NP_000234.1:p.Ser503Tyr
NM_001198536.1:c.875C>A	NP_001185465.1:p.Ser292Tyr
XM_017023236.2:c.1505C>A	XP_016878725.1:p.Ser502Tyr
XR_001751903.1:n.1697C>A
NM_000243.3:c.1508C>A MANE Select	NP_000234.1:p.Ser503Tyr
NM_001198536.2:c.875C>A	NP_001185465.2:p.Ser292Tyr