Canonical Allele Identifier: CA7860109

Gene: MEFV

Linked Data

• ClinVar Variation Id: 955767
• ClinVar RCV Id: RCV001228467 ; RCV002504301 ; RCV003127705 ; RCV003127706
• dbSNP Id: rs200557537
• ExAC: 16:3297075 C / T
• gnomAD v2: 16-3297075-C-T
• gnomAD v3: 16-3247075-C-T
• gnomAD v4: 16-3247075-C-T
• MyVariant Identifiers: chr16:g.3297075C>T (hg19) ; chr16:g.3247075C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3247075C>T , CM000678.2:g.3247075C>T	GRCh38
NC_000016.9:g.3297075C>T , CM000678.1:g.3297075C>T	GRCh37
NC_000016.8:g.3237076C>T	NCBI36
NG_007871.1:g.14553G>A , LRG_190:g.14553G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000219596.6:c.1528G>A MANE Select	ENSP00000219596.1:p.Asp510Asn
ENST00000219596.5:c.1528G>A	ENSP00000219596.1:p.Asp510Asn
ENST00000339854.8:c.988G>A	ENSP00000339639.4:p.Asp330Asn
ENST00000536379.5:c.895G>A	ENSP00000445079.1:p.Asp299Asn
ENST00000536980.5:c.895G>A	ENSP00000444178.1:p.Asp299Asn
ENST00000537682.5:c.1528G>A	ENSP00000438611.1:p.Asp510Asn
ENST00000538326.5:c.*153G>A	ENSP00000437486.1:n.*153G>A
ENST00000539145.5:c.449G>A	ENSP00000444471.1:n.449G>A
ENST00000539154.1:n.893G>A
ENST00000541159.5:c.895G>A	ENSP00000438711.1:p.Asp299Asn
ENST00000542898.5:c.1621G>A	ENSP00000444615.1:p.Asp541Asn
ENST00000570511.5:c.1082G>A	ENSP00000458312.1:n.1082G>A
ENST00000572244.5:c.278-528G>A	ENSP00000461186.1:n.278-528G>A
ENST00000574583.5:c.449G>A	ENSP00000460269.1:n.449G>A
ENST00000576315.5:c.449G>A	ENSP00000460551.1:n.449G>A
ENST00000621655.1:c.895G>A	ENSP00000481436.1:p.Asp299Asn
NM_000243.2:c.1528G>A , LRG_190t1:c.1528G>A	NP_000234.1:p.Asp510Asn
NM_001198536.1:c.895G>A	NP_001185465.1:p.Asp299Asn
XM_017023236.2:c.1525G>A	XP_016878725.1:p.Asp509Asn
XR_001751903.1:n.1717G>A
NM_000243.3:c.1528G>A MANE Select	NP_000234.1:p.Asp510Asn
NM_001198536.2:c.895G>A	NP_001185465.2:p.Asp299Asn