Canonical Allele Identifier: CA394485231

Gene: MEFV

Linked Data

• MyVariant Identifiers: chr16:g.3293278T>A (hg19) ; chr16:g.3243278T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243278T>A , CM000678.2:g.3243278T>A	GRCh38
NC_000016.9:g.3293278T>A , CM000678.1:g.3293278T>A	GRCh37
NC_000016.8:g.3233279T>A	NCBI36
NG_007871.1:g.18350A>T , LRG_190:g.18350A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000697124.1:n.1330A>T
ENST00000219596.6:c.2209A>T MANE Select	ENSP00000219596.1:p.Arg737Ter
ENST00000219596.5:c.2209A>T	ENSP00000219596.1:p.Arg737Ter
ENST00000339854.8:c.1669A>T	ENSP00000339639.4:p.Arg557Ter
ENST00000536379.5:c.1576A>T	ENSP00000445079.1:p.Arg526Ter
ENST00000536980.5:c.*485A>T	ENSP00000444178.1:n.*485A>T
ENST00000537682.5:c.*485A>T	ENSP00000438611.1:n.*485A>T
ENST00000538326.5:c.*834A>T	ENSP00000437486.1:n.*834A>T
ENST00000539145.5:c.1130A>T	ENSP00000444471.1:n.1130A>T
ENST00000541159.5:c.1751A>T	ENSP00000438711.1:n.1751A>T
ENST00000542898.5:c.*485A>T	ENSP00000444615.1:n.*485A>T
ENST00000570511.5:c.1614A>T	ENSP00000458312.1:n.1614A>T
ENST00000572244.5:c.899A>T	ENSP00000461186.1:n.899A>T
ENST00000574583.5:c.981A>T	ENSP00000460269.1:n.981A>T
ENST00000576315.5:c.1014A>T	ENSP00000460551.1:n.1014A>T
ENST00000621655.1:c.1746A>T	ENSP00000481436.1:n.1746A>T
NM_000243.2:c.2209A>T , LRG_190t1:c.2209A>T	NP_000234.1:p.Arg737Ter
NM_001198536.1:c.*413A>T	NP_001185465.1:n.*413A>T
XM_017023236.2:c.2206A>T	XP_016878725.1:p.Arg736Ter
NM_000243.3:c.2209A>T MANE Select	NP_000234.1:p.Arg737Ter
NM_001198536.2:c.*413A>T	NP_001185465.2:n.*413A>T