Canonical Allele Identifier: CA394485177

Gene: MEFV

Linked Data

• MyVariant Identifiers: chr16:g.3293270G>T (hg19) ; chr16:g.3243270G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243270G>T , CM000678.2:g.3243270G>T	GRCh38
NC_000016.9:g.3293270G>T , CM000678.1:g.3293270G>T	GRCh37
NC_000016.8:g.3233271G>T	NCBI36
NG_007871.1:g.18358C>A , LRG_190:g.18358C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1338C>A
ENST00000219596.6:c.2217C>A MANE Select	ENSP00000219596.1:p.His739Gln
ENST00000219596.5:c.2217C>A	ENSP00000219596.1:p.His739Gln
ENST00000339854.8:c.1677C>A	ENSP00000339639.4:p.His559Gln
ENST00000536379.5:c.1584C>A	ENSP00000445079.1:p.His528Gln
ENST00000536980.5:c.*493C>A	ENSP00000444178.1:n.*493C>A
ENST00000537682.5:c.*493C>A	ENSP00000438611.1:n.*493C>A
ENST00000538326.5:c.*842C>A	ENSP00000437486.1:n.*842C>A
ENST00000539145.5:c.1138C>A	ENSP00000444471.1:n.1138C>A
ENST00000541159.5:c.1759C>A	ENSP00000438711.1:n.1759C>A
ENST00000542898.5:c.*493C>A	ENSP00000444615.1:n.*493C>A
ENST00000570511.5:c.1622C>A	ENSP00000458312.1:n.1622C>A
ENST00000572244.5:c.907C>A	ENSP00000461186.1:n.907C>A
ENST00000574583.5:c.989C>A	ENSP00000460269.1:n.989C>A
ENST00000576315.5:c.1022C>A	ENSP00000460551.1:n.1022C>A
ENST00000621655.1:c.1754C>A	ENSP00000481436.1:n.1754C>A
NM_000243.2:c.2217C>A , LRG_190t1:c.2217C>A	NP_000234.1:p.His739Gln
NM_001198536.1:c.*421C>A	NP_001185465.1:n.*421C>A
XM_017023236.2:c.2214C>A	XP_016878725.1:p.His738Gln
NM_000243.3:c.2217C>A MANE Select	NP_000234.1:p.His739Gln
NM_001198536.2:c.*421C>A	NP_001185465.2:n.*421C>A