Canonical Allele Identifier: CA493208678

Gene: MEFV

Linked Data

• ClinVar Variation Id: 2900603
• ClinVar RCV Id: RCV003606821
• MyVariant Identifiers: chr16:g.3294561C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3244561C>T , CM000678.2:g.3244561C>T	GRCh38
NC_000016.9:g.3294561C>T , CM000678.1:g.3294561C>T	GRCh37
NC_000016.8:g.3234562C>T	NCBI36
NG_007871.1:g.17067G>A , LRG_190:g.17067G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.759G>A
ENST00000219596.6:c.1638G>A MANE Select	ENSP00000219596.1:p.Lys546=
ENST00000219596.5:c.1638G>A	ENSP00000219596.1:p.Lys546=
ENST00000339854.8:c.1098G>A	ENSP00000339639.4:p.Lys366=
ENST00000536379.5:c.1005G>A	ENSP00000445079.1:p.Lys335=
ENST00000536980.5:c.1005G>A	ENSP00000444178.1:p.Lys335=
ENST00000537682.5:c.1638G>A	ENSP00000438611.1:p.Lys546=
ENST00000538326.5:c.*263G>A	ENSP00000437486.1:n.*263G>A
ENST00000539145.5:c.559G>A	ENSP00000444471.1:n.559G>A
ENST00000541159.5:c.1005G>A	ENSP00000438711.1:p.Lys335=
ENST00000542898.5:c.1731G>A	ENSP00000444615.1:p.Lys577=
ENST00000570511.5:c.1165-669G>A	ENSP00000458312.1:n.1165-669G>A
ENST00000572244.5:c.328G>A	ENSP00000461186.1:n.328G>A
ENST00000574583.5:c.532-669G>A	ENSP00000460269.1:n.532-669G>A
ENST00000576315.5:c.532-275G>A	ENSP00000460551.1:n.532-275G>A
ENST00000621655.1:c.1005G>A	ENSP00000481436.1:p.Lys335=
NM_000243.2:c.1638G>A , LRG_190t1:c.1638G>A	NP_000234.1:p.Lys546=
NM_001198536.1:c.1005G>A	NP_001185465.1:p.Lys335=
XM_017023236.2:c.1635G>A	XP_016878725.1:p.Lys545=
XR_001751903.1:n.1827G>A
NM_000243.3:c.1638G>A MANE Select	NP_000234.1:p.Lys546=
NM_001198536.2:c.1005G>A	NP_001185465.2:p.Lys335=