Canonical Allele Identifier: CA394463381

Gene: MEFV

Linked Data

• ClinVar Variation Id: 1469430
• ClinVar RCV Id: RCV001961563
• dbSNP Id: rs2141668949
• MyVariant Identifiers: chr16:g.3297051C>T (hg19) ; chr16:g.3247051C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3247051C>T , CM000678.2:g.3247051C>T	GRCh38
NC_000016.9:g.3297051C>T , CM000678.1:g.3297051C>T	GRCh37
NC_000016.8:g.3237052C>T	NCBI36
NG_007871.1:g.14577G>A , LRG_190:g.14577G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000219596.6:c.1552G>A MANE Select	ENSP00000219596.1:p.Ala518Thr
ENST00000219596.5:c.1552G>A	ENSP00000219596.1:p.Ala518Thr
ENST00000339854.8:c.1012G>A	ENSP00000339639.4:p.Ala338Thr
ENST00000536379.5:c.919G>A	ENSP00000445079.1:p.Ala307Thr
ENST00000536980.5:c.919G>A	ENSP00000444178.1:p.Ala307Thr
ENST00000537682.5:c.1552G>A	ENSP00000438611.1:p.Ala518Thr
ENST00000538326.5:c.*177G>A	ENSP00000437486.1:n.*177G>A
ENST00000539145.5:c.473G>A	ENSP00000444471.1:n.473G>A
ENST00000539154.1:n.917G>A
ENST00000541159.5:c.919G>A	ENSP00000438711.1:p.Ala307Thr
ENST00000542898.5:c.1645G>A	ENSP00000444615.1:p.Ala549Thr
ENST00000570511.5:c.1106G>A	ENSP00000458312.1:n.1106G>A
ENST00000572244.5:c.278-504G>A	ENSP00000461186.1:n.278-504G>A
ENST00000574583.5:c.473G>A	ENSP00000460269.1:n.473G>A
ENST00000576315.5:c.473G>A	ENSP00000460551.1:n.473G>A
ENST00000621655.1:c.919G>A	ENSP00000481436.1:p.Ala307Thr
NM_000243.2:c.1552G>A , LRG_190t1:c.1552G>A	NP_000234.1:p.Ala518Thr
NM_001198536.1:c.919G>A	NP_001185465.1:p.Ala307Thr
XM_017023236.2:c.1549G>A	XP_016878725.1:p.Ala517Thr
XR_001751903.1:n.1741G>A
NM_000243.3:c.1552G>A MANE Select	NP_000234.1:p.Ala518Thr
NM_001198536.2:c.919G>A	NP_001185465.2:p.Ala307Thr