Canonical Allele Identifier: CA394458551

Gene: MEFV

Linked Data

• ClinVar Variation Id: 1386886
• ClinVar RCV Id: RCV001881680
• dbSNP Id: rs1958910539
• gnomAD v4: 16-3244535-T-G
• MyVariant Identifiers: chr16:g.3294535T>G (hg19) ; chr16:g.3244535T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3244535T>G , CM000678.2:g.3244535T>G	GRCh38
NC_000016.9:g.3294535T>G , CM000678.1:g.3294535T>G	GRCh37
NC_000016.8:g.3234536T>G	NCBI36
NG_007871.1:g.17093A>C , LRG_190:g.17093A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.785A>C
ENST00000219596.6:c.1664A>C MANE Select	ENSP00000219596.1:p.Gln555Pro
ENST00000219596.5:c.1664A>C	ENSP00000219596.1:p.Gln555Pro
ENST00000339854.8:c.1124A>C	ENSP00000339639.4:p.Gln375Pro
ENST00000536379.5:c.1031A>C	ENSP00000445079.1:p.Gln344Pro
ENST00000536980.5:c.1031A>C	ENSP00000444178.1:p.Gln344Pro
ENST00000537682.5:c.1664A>C	ENSP00000438611.1:p.Gln555Pro
ENST00000538326.5:c.*289A>C	ENSP00000437486.1:n.*289A>C
ENST00000539145.5:c.585A>C	ENSP00000444471.1:n.585A>C
ENST00000541159.5:c.1031A>C	ENSP00000438711.1:p.Gln344Pro
ENST00000542898.5:c.1757A>C	ENSP00000444615.1:p.Gln586Pro
ENST00000570511.5:c.1165-643A>C	ENSP00000458312.1:n.1165-643A>C
ENST00000572244.5:c.354A>C	ENSP00000461186.1:n.354A>C
ENST00000574583.5:c.532-643A>C	ENSP00000460269.1:n.532-643A>C
ENST00000576315.5:c.532-249A>C	ENSP00000460551.1:n.532-249A>C
ENST00000621655.1:c.1031A>C	ENSP00000481436.1:p.Gln344Pro
NM_000243.2:c.1664A>C , LRG_190t1:c.1664A>C	NP_000234.1:p.Gln555Pro
NM_001198536.1:c.1031A>C	NP_001185465.1:p.Gln344Pro
XM_017023236.2:c.1661A>C	XP_016878725.1:p.Gln554Pro
XR_001751903.1:n.1853A>C
NM_000243.3:c.1664A>C MANE Select	NP_000234.1:p.Gln555Pro
NM_001198536.2:c.1031A>C	NP_001185465.2:p.Gln344Pro