Canonical Allele Identifier: CA493257725

Gene: MEFV

Linked Data

• MyVariant Identifiers: chr16:g.3293180A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243180A>C , CM000678.2:g.3243180A>C	GRCh38
NC_000016.9:g.3293180A>C , CM000678.1:g.3293180A>C	GRCh37
NC_000016.8:g.3233181A>C	NCBI36
NG_007871.1:g.18448T>G , LRG_190:g.18448T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1428T>G
ENST00000219596.6:c.2307T>G MANE Select	ENSP00000219596.1:p.Pro769=
ENST00000219596.5:c.2307T>G	ENSP00000219596.1:p.Pro769=
ENST00000339854.8:c.1767T>G	ENSP00000339639.4:p.Pro589=
ENST00000536379.5:c.1674T>G	ENSP00000445079.1:p.Pro558=
ENST00000536980.5:c.*583T>G	ENSP00000444178.1:n.*583T>G
ENST00000537682.5:c.*583T>G	ENSP00000438611.1:n.*583T>G
ENST00000538326.5:c.*932T>G	ENSP00000437486.1:n.*932T>G
ENST00000539145.5:c.1228T>G	ENSP00000444471.1:n.1228T>G
ENST00000541159.5:c.1849T>G	ENSP00000438711.1:n.1849T>G
ENST00000542898.5:c.*583T>G	ENSP00000444615.1:n.*583T>G
ENST00000570511.5:c.1712T>G	ENSP00000458312.1:n.1712T>G
ENST00000572244.5:c.997T>G	ENSP00000461186.1:n.997T>G
ENST00000574583.5:c.1079T>G	ENSP00000460269.1:n.1079T>G
ENST00000576315.5:c.1112T>G	ENSP00000460551.1:n.1112T>G
ENST00000621655.1:c.1844T>G	ENSP00000481436.1:n.1844T>G
NM_000243.2:c.2307T>G , LRG_190t1:c.2307T>G	NP_000234.1:p.Pro769=
NM_001198536.1:c.*511T>G	NP_001185465.1:n.*511T>G
XM_017023236.2:c.2304T>G	XP_016878725.1:p.Pro768=
NM_000243.3:c.2307T>G MANE Select	NP_000234.1:p.Pro769=
NM_001198536.2:c.*511T>G	NP_001185465.2:n.*511T>G