Canonical Allele Identifier: CA493383785

Gene: MEFV

Linked Data

• MyVariant Identifiers: chr16:g.3293459C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243459C>T , CM000678.2:g.3243459C>T	GRCh38
NC_000016.9:g.3293459C>T , CM000678.1:g.3293459C>T	GRCh37
NC_000016.8:g.3233460C>T	NCBI36
NG_007871.1:g.18169G>A , LRG_190:g.18169G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000697124.1:n.1149G>A
ENST00000219596.6:c.2028G>A MANE Select	ENSP00000219596.1:p.Arg676=
ENST00000219596.5:c.2028G>A	ENSP00000219596.1:p.Arg676=
ENST00000339854.8:c.1488G>A	ENSP00000339639.4:p.Arg496=
ENST00000536379.5:c.1395G>A	ENSP00000445079.1:p.Arg465=
ENST00000536980.5:c.*304G>A	ENSP00000444178.1:n.*304G>A
ENST00000537682.5:c.*304G>A	ENSP00000438611.1:n.*304G>A
ENST00000538326.5:c.*653G>A	ENSP00000437486.1:n.*653G>A
ENST00000539145.5:c.949G>A	ENSP00000444471.1:n.949G>A
ENST00000541159.5:c.1570G>A	ENSP00000438711.1:n.1570G>A
ENST00000542898.5:c.*304G>A	ENSP00000444615.1:n.*304G>A
ENST00000570511.5:c.1433G>A	ENSP00000458312.1:n.1433G>A
ENST00000572244.5:c.718G>A	ENSP00000461186.1:n.718G>A
ENST00000574583.5:c.800G>A	ENSP00000460269.1:n.800G>A
ENST00000576315.5:c.833G>A	ENSP00000460551.1:n.833G>A
ENST00000621655.1:c.1565G>A	ENSP00000481436.1:n.1565G>A
NM_000243.2:c.2028G>A , LRG_190t1:c.2028G>A	NP_000234.1:p.Arg676=
NM_001198536.1:c.*232G>A	NP_001185465.1:n.*232G>A
XM_017023236.2:c.2025G>A	XP_016878725.1:p.Arg675=
NM_000243.3:c.2028G>A MANE Select	NP_000234.1:p.Arg676=
NM_001198536.2:c.*232G>A	NP_001185465.2:n.*232G>A