Canonical Allele Identifier: CA280398

Gene: MEFV

Linked Data

• ClinVar Variation Id: 97443
• ClinVar RCV Id: RCV000083694
• dbSNP Id: rs104895207
• gnomAD v2: 16-3297190-G-T
• gnomAD v4: 16-3247190-G-T
• MyVariant Identifiers: chr16:g.3297190G>T (hg19) ; chr16:g.3247190G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3247190G>T , CM000678.2:g.3247190G>T	GRCh38
NC_000016.9:g.3297190G>T , CM000678.1:g.3297190G>T	GRCh37
NC_000016.8:g.3237191G>T	NCBI36
NG_007871.1:g.14438C>A , LRG_190:g.14438C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219596.6:c.1413C>A MANE Select	ENSP00000219596.1:p.Tyr471Ter
ENST00000219596.5:c.1413C>A	ENSP00000219596.1:p.Tyr471Ter
ENST00000339854.8:c.873C>A	ENSP00000339639.4:p.Tyr291Ter
ENST00000536379.5:c.780C>A	ENSP00000445079.1:p.Tyr260Ter
ENST00000536980.5:c.780C>A	ENSP00000444178.1:p.Tyr260Ter
ENST00000537682.5:c.1413C>A	ENSP00000438611.1:p.Tyr471Ter
ENST00000538326.5:c.*38C>A	ENSP00000437486.1:n.*38C>A
ENST00000539145.5:c.334C>A	ENSP00000444471.1:n.334C>A
ENST00000539154.1:n.778C>A
ENST00000541159.5:c.780C>A	ENSP00000438711.1:p.Tyr260Ter
ENST00000542898.5:c.1506C>A	ENSP00000444615.1:p.Tyr502Ter
ENST00000570511.5:c.967C>A	ENSP00000458312.1:n.967C>A
ENST00000572244.5:c.278-643C>A	ENSP00000461186.1:n.278-643C>A
ENST00000574583.5:c.334C>A	ENSP00000460269.1:n.334C>A
ENST00000576315.5:c.334C>A	ENSP00000460551.1:n.334C>A
ENST00000621655.1:c.780C>A	ENSP00000481436.1:p.Tyr260Ter
NM_000243.2:c.1413C>A , LRG_190t1:c.1413C>A	NP_000234.1:p.Tyr471Ter
NM_001198536.1:c.780C>A	NP_001185465.1:p.Tyr260Ter
XM_017023236.2:c.1410C>A	XP_016878725.1:p.Tyr470Ter
XR_001751903.1:n.1602C>A
NM_000243.3:c.1413C>A MANE Select	NP_000234.1:p.Tyr471Ter
NM_001198536.2:c.780C>A	NP_001185465.2:p.Tyr260Ter