Canonical Allele Identifier: CA7859839

Gene: MEFV

Linked Data

• ClinVar Variation Id: 1285085
• ClinVar RCV Id: RCV001703387
• dbSNP Id: rs148707371
• ExAC: 16:3293191 T / G
• gnomAD v2: 16-3293191-T-G
• gnomAD v3: 16-3243191-T-G
• gnomAD v4: 16-3243191-T-G
• MyVariant Identifiers: chr16:g.3293191T>G (hg19) ; chr16:g.3243191T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243191T>G , CM000678.2:g.3243191T>G	GRCh38
NC_000016.9:g.3293191T>G , CM000678.1:g.3293191T>G	GRCh37
NC_000016.8:g.3233192T>G	NCBI36
NG_007871.1:g.18437A>C , LRG_190:g.18437A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1417A>C
ENST00000219596.6:c.2296A>C MANE Select	ENSP00000219596.1:p.Asn766His
ENST00000219596.5:c.2296A>C	ENSP00000219596.1:p.Asn766His
ENST00000339854.8:c.1756A>C	ENSP00000339639.4:p.Asn586His
ENST00000536379.5:c.1663A>C	ENSP00000445079.1:p.Asn555His
ENST00000536980.5:c.*572A>C	ENSP00000444178.1:n.*572A>C
ENST00000537682.5:c.*572A>C	ENSP00000438611.1:n.*572A>C
ENST00000538326.5:c.*921A>C	ENSP00000437486.1:n.*921A>C
ENST00000539145.5:c.1217A>C	ENSP00000444471.1:n.1217A>C
ENST00000541159.5:c.1838A>C	ENSP00000438711.1:n.1838A>C
ENST00000542898.5:c.*572A>C	ENSP00000444615.1:n.*572A>C
ENST00000570511.5:c.1701A>C	ENSP00000458312.1:n.1701A>C
ENST00000572244.5:c.986A>C	ENSP00000461186.1:n.986A>C
ENST00000574583.5:c.1068A>C	ENSP00000460269.1:n.1068A>C
ENST00000576315.5:c.1101A>C	ENSP00000460551.1:n.1101A>C
ENST00000621655.1:c.1833A>C	ENSP00000481436.1:n.1833A>C
NM_000243.2:c.2296A>C , LRG_190t1:c.2296A>C	NP_000234.1:p.Asn766His
NM_001198536.1:c.*500A>C	NP_001185465.1:n.*500A>C
XM_017023236.2:c.2293A>C	XP_016878725.1:p.Asn765His
NM_000243.3:c.2296A>C MANE Select	NP_000234.1:p.Asn766His
NM_001198536.2:c.*500A>C	NP_001185465.2:n.*500A>C