Canonical Allele Identifier: CA276955174

Gene: MEFV

Linked Data

• dbSNP Id: rs750959153
• gnomAD v4: 16-3243451-T-C
• MyVariant Identifiers: chr16:g.3293451T>C (hg19) ; chr16:g.3243451T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243451T>C , CM000678.2:g.3243451T>C	GRCh38
NC_000016.9:g.3293451T>C , CM000678.1:g.3293451T>C	GRCh37
NC_000016.8:g.3233452T>C	NCBI36
NG_007871.1:g.18177A>G , LRG_190:g.18177A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000697124.1:n.1157A>G
ENST00000219596.6:c.2036A>G MANE Select	ENSP00000219596.1:p.Asn679Ser
ENST00000219596.5:c.2036A>G	ENSP00000219596.1:p.Asn679Ser
ENST00000339854.8:c.1496A>G	ENSP00000339639.4:p.Asn499Ser
ENST00000536379.5:c.1403A>G	ENSP00000445079.1:p.Asn468Ser
ENST00000536980.5:c.*312A>G	ENSP00000444178.1:n.*312A>G
ENST00000537682.5:c.*312A>G	ENSP00000438611.1:n.*312A>G
ENST00000538326.5:c.*661A>G	ENSP00000437486.1:n.*661A>G
ENST00000539145.5:c.957A>G	ENSP00000444471.1:n.957A>G
ENST00000541159.5:c.1578A>G	ENSP00000438711.1:n.1578A>G
ENST00000542898.5:c.*312A>G	ENSP00000444615.1:n.*312A>G
ENST00000570511.5:c.1441A>G	ENSP00000458312.1:n.1441A>G
ENST00000572244.5:c.726A>G	ENSP00000461186.1:n.726A>G
ENST00000574583.5:c.808A>G	ENSP00000460269.1:n.808A>G
ENST00000576315.5:c.841A>G	ENSP00000460551.1:n.841A>G
ENST00000621655.1:c.1573A>G	ENSP00000481436.1:n.1573A>G
NM_000243.2:c.2036A>G , LRG_190t1:c.2036A>G	NP_000234.1:p.Asn679Ser
NM_001198536.1:c.*240A>G	NP_001185465.1:n.*240A>G
XM_017023236.2:c.2033A>G	XP_016878725.1:p.Asn678Ser
NM_000243.3:c.2036A>G MANE Select	NP_000234.1:p.Asn679Ser
NM_001198536.2:c.*240A>G	NP_001185465.2:n.*240A>G