Canonical Allele Identifier: CA394485291

Gene: MEFV

Linked Data

• ClinVar Variation Id: 1057455
• ClinVar RCV Id: RCV001366441
• dbSNP Id: rs1958885115
• gnomAD v4: 16-3243283-G-A
• MyVariant Identifiers: chr16:g.3293283G>A (hg19) ; chr16:g.3243283G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243283G>A , CM000678.2:g.3243283G>A	GRCh38
NC_000016.9:g.3293283G>A , CM000678.1:g.3293283G>A	GRCh37
NC_000016.8:g.3233284G>A	NCBI36
NG_007871.1:g.18345C>T , LRG_190:g.18345C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1325C>T
ENST00000219596.6:c.2204C>T MANE Select	ENSP00000219596.1:p.Thr735Ile
ENST00000219596.5:c.2204C>T	ENSP00000219596.1:p.Thr735Ile
ENST00000339854.8:c.1664C>T	ENSP00000339639.4:p.Thr555Ile
ENST00000536379.5:c.1571C>T	ENSP00000445079.1:p.Thr524Ile
ENST00000536980.5:c.*480C>T	ENSP00000444178.1:n.*480C>T
ENST00000537682.5:c.*480C>T	ENSP00000438611.1:n.*480C>T
ENST00000538326.5:c.*829C>T	ENSP00000437486.1:n.*829C>T
ENST00000539145.5:c.1125C>T	ENSP00000444471.1:n.1125C>T
ENST00000541159.5:c.1746C>T	ENSP00000438711.1:n.1746C>T
ENST00000542898.5:c.*480C>T	ENSP00000444615.1:n.*480C>T
ENST00000570511.5:c.1609C>T	ENSP00000458312.1:n.1609C>T
ENST00000572244.5:c.894C>T	ENSP00000461186.1:n.894C>T
ENST00000574583.5:c.976C>T	ENSP00000460269.1:n.976C>T
ENST00000576315.5:c.1009C>T	ENSP00000460551.1:n.1009C>T
ENST00000621655.1:c.1741C>T	ENSP00000481436.1:n.1741C>T
NM_000243.2:c.2204C>T , LRG_190t1:c.2204C>T	NP_000234.1:p.Thr735Ile
NM_001198536.1:c.*408C>T	NP_001185465.1:n.*408C>T
XM_017023236.2:c.2201C>T	XP_016878725.1:p.Thr734Ile
NM_000243.3:c.2204C>T MANE Select	NP_000234.1:p.Thr735Ile
NM_001198536.2:c.*408C>T	NP_001185465.2:n.*408C>T