Canonical Allele Identifier: CA394485093

Gene: MEFV

Linked Data

• ClinVar Variation Id: 999011
• ClinVar RCV Id: RCV001294949
• dbSNP Id: rs61732874
• MyVariant Identifiers: chr16:g.3293257C>G (hg19) ; chr16:g.3243257C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243257C>G , CM000678.2:g.3243257C>G	GRCh38
NC_000016.9:g.3293257C>G , CM000678.1:g.3293257C>G	GRCh37
NC_000016.8:g.3233258C>G	NCBI36
NG_007871.1:g.18371G>C , LRG_190:g.18371G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1351G>C
ENST00000219596.6:c.2230G>C MANE Select	ENSP00000219596.1:p.Ala744Pro
ENST00000219596.5:c.2230G>C	ENSP00000219596.1:p.Ala744Pro
ENST00000339854.8:c.1690G>C	ENSP00000339639.4:p.Ala564Pro
ENST00000536379.5:c.1597G>C	ENSP00000445079.1:p.Ala533Pro
ENST00000536980.5:c.*506G>C	ENSP00000444178.1:n.*506G>C
ENST00000537682.5:c.*506G>C	ENSP00000438611.1:n.*506G>C
ENST00000538326.5:c.*855G>C	ENSP00000437486.1:n.*855G>C
ENST00000539145.5:c.1151G>C	ENSP00000444471.1:n.1151G>C
ENST00000541159.5:c.1772G>C	ENSP00000438711.1:n.1772G>C
ENST00000542898.5:c.*506G>C	ENSP00000444615.1:n.*506G>C
ENST00000570511.5:c.1635G>C	ENSP00000458312.1:n.1635G>C
ENST00000572244.5:c.920G>C	ENSP00000461186.1:n.920G>C
ENST00000574583.5:c.1002G>C	ENSP00000460269.1:n.1002G>C
ENST00000576315.5:c.1035G>C	ENSP00000460551.1:n.1035G>C
ENST00000621655.1:c.1767G>C	ENSP00000481436.1:n.1767G>C
NM_000243.2:c.2230G>C , LRG_190t1:c.2230G>C	NP_000234.1:p.Ala744Pro
NM_001198536.1:c.*434G>C	NP_001185465.1:n.*434G>C
XM_017023236.2:c.2227G>C	XP_016878725.1:p.Ala743Pro
NM_000243.3:c.2230G>C MANE Select	NP_000234.1:p.Ala744Pro
NM_001198536.2:c.*434G>C	NP_001185465.2:n.*434G>C