Canonical Allele Identifier: CA394487555

Gene: MEFV

Linked Data

• MyVariant Identifiers: chr16:g.3293546A>C (hg19) ; chr16:g.3243546A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243546A>C , CM000678.2:g.3243546A>C	GRCh38
NC_000016.9:g.3293546A>C , CM000678.1:g.3293546A>C	GRCh37
NC_000016.8:g.3233547A>C	NCBI36
NG_007871.1:g.18082T>G , LRG_190:g.18082T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1062T>G
ENST00000219596.6:c.1941T>G MANE Select	ENSP00000219596.1:p.Ser647Arg
ENST00000219596.5:c.1941T>G	ENSP00000219596.1:p.Ser647Arg
ENST00000339854.8:c.1401T>G	ENSP00000339639.4:p.Ser467Arg
ENST00000536379.5:c.1308T>G	ENSP00000445079.1:p.Ser436Arg
ENST00000536980.5:c.*217T>G	ENSP00000444178.1:n.*217T>G
ENST00000537682.5:c.*217T>G	ENSP00000438611.1:n.*217T>G
ENST00000538326.5:c.*566T>G	ENSP00000437486.1:n.*566T>G
ENST00000539145.5:c.862T>G	ENSP00000444471.1:n.862T>G
ENST00000541159.5:c.1483T>G	ENSP00000438711.1:n.1483T>G
ENST00000542898.5:c.*217T>G	ENSP00000444615.1:n.*217T>G
ENST00000570511.5:c.1346T>G	ENSP00000458312.1:n.1346T>G
ENST00000572244.5:c.631T>G	ENSP00000461186.1:n.631T>G
ENST00000574583.5:c.713T>G	ENSP00000460269.1:n.713T>G
ENST00000576315.5:c.746T>G	ENSP00000460551.1:n.746T>G
ENST00000621655.1:c.1478T>G	ENSP00000481436.1:n.1478T>G
NM_000243.2:c.1941T>G , LRG_190t1:c.1941T>G	NP_000234.1:p.Ser647Arg
NM_001198536.1:c.*145T>G	NP_001185465.1:n.*145T>G
XM_017023236.2:c.1938T>G	XP_016878725.1:p.Ser646Arg
NM_000243.3:c.1941T>G MANE Select	NP_000234.1:p.Ser647Arg
NM_001198536.2:c.*145T>G	NP_001185465.2:n.*145T>G