Canonical Allele Identifier: CA276902835

Gene: MEFV

Linked Data

• ClinVar Variation Id: 1011684
• ClinVar RCV Id: RCV001309521 ; RCV002476432 ; RCV003127789 ; RCV003127788
• dbSNP Id: rs797001768
• gnomAD v2: 16-3304593-T-C
• gnomAD v3: 16-3254593-T-C
• gnomAD v4: 16-3254593-T-C
• MyVariant Identifiers: chr16:g.3304593T>C (hg19) ; chr16:g.3254593T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3254593T>C , CM000678.2:g.3254593T>C	GRCh38
NC_000016.9:g.3304593T>C , CM000678.1:g.3304593T>C	GRCh37
NC_000016.8:g.3244594T>C	NCBI36
NG_007871.1:g.7035A>G , LRG_190:g.7035A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219596.6:c.475A>G MANE Select	ENSP00000219596.1:p.Ser159Gly
ENST00000219596.5:c.475A>G	ENSP00000219596.1:p.Ser159Gly
ENST00000339854.8:c.277+1718A>G	ENSP00000339639.4:n.277+1718A>G
ENST00000536379.5:c.277+1718A>G	ENSP00000445079.1:n.277+1718A>G
ENST00000536980.5:c.277+1718A>G	ENSP00000444178.1:n.277+1718A>G
ENST00000537682.5:c.475A>G	ENSP00000438611.1:p.Ser159Gly
ENST00000538326.5:c.475A>G	ENSP00000437486.1:p.Ser159Gly
ENST00000539145.5:c.277+1718A>G	ENSP00000444471.1:n.277+1718A>G
ENST00000541159.5:c.277+1718A>G	ENSP00000438711.1:n.277+1718A>G
ENST00000542898.5:c.475A>G	ENSP00000444615.1:p.Ser159Gly
ENST00000570511.5:c.475A>G	ENSP00000458312.1:p.Ser159Gly
ENST00000572244.5:c.277+1718A>G	ENSP00000461186.1:n.277+1718A>G
ENST00000574583.5:c.277+1718A>G	ENSP00000460269.1:n.277+1718A>G
ENST00000576315.5:c.277+1718A>G	ENSP00000460551.1:n.277+1718A>G
ENST00000621655.1:c.277+1718A>G	ENSP00000481436.1:n.277+1718A>G
NM_000243.2:c.475A>G , LRG_190t1:c.475A>G	NP_000234.1:p.Ser159Gly
NM_001198536.1:c.277+1718A>G	NP_001185465.1:n.277+1718A>G
XM_017023236.2:c.475A>G	XP_016878725.1:p.Ser159Gly
XR_001751903.1:n.664A>G
NM_000243.3:c.475A>G MANE Select	NP_000234.1:p.Ser159Gly
NM_001198536.2:c.277+1718A>G	NP_001185465.2:n.277+1718A>G