Canonical Allele Identifier: CA280558

Gene: MEFV

Linked Data

• ClinVar Variation Id: 97506
• ClinVar RCV Id: RCV000083758 ; RCV002444554
• dbSNP Id: rs104895174
• ExAC: 16:3293228 T / C
• gnomAD v2: 16-3293228-T-C
• gnomAD v4: 16-3243228-T-C
• MyVariant Identifiers: chr16:g.3293228T>C (hg19) ; chr16:g.3243228T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243228T>C , CM000678.2:g.3243228T>C	GRCh38
NC_000016.9:g.3293228T>C , CM000678.1:g.3293228T>C	GRCh37
NC_000016.8:g.3233229T>C	NCBI36
NG_007871.1:g.18400A>G , LRG_190:g.18400A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1380A>G
ENST00000219596.6:c.2259A>G MANE Select	ENSP00000219596.1:p.Gln753=
ENST00000219596.5:c.2259A>G	ENSP00000219596.1:p.Gln753=
ENST00000339854.8:c.1719A>G	ENSP00000339639.4:p.Gln573=
ENST00000536379.5:c.1626A>G	ENSP00000445079.1:p.Gln542=
ENST00000536980.5:c.*535A>G	ENSP00000444178.1:n.*535A>G
ENST00000537682.5:c.*535A>G	ENSP00000438611.1:n.*535A>G
ENST00000538326.5:c.*884A>G	ENSP00000437486.1:n.*884A>G
ENST00000539145.5:c.1180A>G	ENSP00000444471.1:n.1180A>G
ENST00000541159.5:c.1801A>G	ENSP00000438711.1:n.1801A>G
ENST00000542898.5:c.*535A>G	ENSP00000444615.1:n.*535A>G
ENST00000570511.5:c.1664A>G	ENSP00000458312.1:n.1664A>G
ENST00000572244.5:c.949A>G	ENSP00000461186.1:n.949A>G
ENST00000574583.5:c.1031A>G	ENSP00000460269.1:n.1031A>G
ENST00000576315.5:c.1064A>G	ENSP00000460551.1:n.1064A>G
ENST00000621655.1:c.1796A>G	ENSP00000481436.1:n.1796A>G
NM_000243.2:c.2259A>G , LRG_190t1:c.2259A>G	NP_000234.1:p.Gln753=
NM_001198536.1:c.*463A>G	NP_001185465.1:n.*463A>G
XM_017023236.2:c.2256A>G	XP_016878725.1:p.Gln752=
NM_000243.3:c.2259A>G MANE Select	NP_000234.1:p.Gln753=
NM_001198536.2:c.*463A>G	NP_001185465.2:n.*463A>G