Canonical Allele Identifier: CA394458287

Gene: MEFV

Linked Data

• MyVariant Identifiers: chr16:g.3294517T>C (hg19) ; chr16:g.3244517T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3244517T>C , CM000678.2:g.3244517T>C	GRCh38
NC_000016.9:g.3294517T>C , CM000678.1:g.3294517T>C	GRCh37
NC_000016.8:g.3234518T>C	NCBI36
NG_007871.1:g.17111A>G , LRG_190:g.17111A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.803A>G
ENST00000219596.6:c.1682A>G MANE Select	ENSP00000219596.1:p.His561Arg
ENST00000219596.5:c.1682A>G	ENSP00000219596.1:p.His561Arg
ENST00000339854.8:c.1142A>G	ENSP00000339639.4:p.His381Arg
ENST00000536379.5:c.1049A>G	ENSP00000445079.1:p.His350Arg
ENST00000536980.5:c.1049A>G	ENSP00000444178.1:p.His350Arg
ENST00000537682.5:c.1682A>G	ENSP00000438611.1:p.His561Arg
ENST00000538326.5:c.*307A>G	ENSP00000437486.1:n.*307A>G
ENST00000539145.5:c.603A>G	ENSP00000444471.1:n.603A>G
ENST00000541159.5:c.1049A>G	ENSP00000438711.1:p.His350Arg
ENST00000542898.5:c.1775A>G	ENSP00000444615.1:p.His592Arg
ENST00000570511.5:c.1165-625A>G	ENSP00000458312.1:n.1165-625A>G
ENST00000572244.5:c.372A>G	ENSP00000461186.1:n.372A>G
ENST00000574583.5:c.532-625A>G	ENSP00000460269.1:n.532-625A>G
ENST00000576315.5:c.532-231A>G	ENSP00000460551.1:n.532-231A>G
ENST00000621655.1:c.1049A>G	ENSP00000481436.1:p.His350Arg
NM_000243.2:c.1682A>G , LRG_190t1:c.1682A>G	NP_000234.1:p.His561Arg
NM_001198536.1:c.1049A>G	NP_001185465.1:p.His350Arg
XM_017023236.2:c.1679A>G	XP_016878725.1:p.His560Arg
XR_001751903.1:n.1871A>G
NM_000243.3:c.1682A>G MANE Select	NP_000234.1:p.His561Arg
NM_001198536.2:c.1049A>G	NP_001185465.2:p.His350Arg