Canonical Allele Identifier: CA394488927

Gene: MEFV

Linked Data

• MyVariant Identifiers: chr16:g.3293882C>A (hg19) ; chr16:g.3243882C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243882C>A , CM000678.2:g.3243882C>A	GRCh38
NC_000016.9:g.3293882C>A , CM000678.1:g.3293882C>A	GRCh37
NC_000016.8:g.3233883C>A	NCBI36
NG_007871.1:g.17746G>T , LRG_190:g.17746G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.891G>T
ENST00000219596.6:c.1770G>T MANE Select	ENSP00000219596.1:p.Leu590=
ENST00000219596.5:c.1770G>T	ENSP00000219596.1:p.Leu590=
ENST00000339854.8:c.1230G>T	ENSP00000339639.4:p.Leu410=
ENST00000536379.5:c.1137G>T	ENSP00000445079.1:p.Leu379=
ENST00000536980.5:c.*46G>T	ENSP00000444178.1:n.*46G>T
ENST00000537682.5:c.*46G>T	ENSP00000438611.1:n.*46G>T
ENST00000538326.5:c.*395G>T	ENSP00000437486.1:n.*395G>T
ENST00000539145.5:c.691G>T	ENSP00000444471.1:n.691G>T
ENST00000541159.5:c.1312G>T	ENSP00000438711.1:p.Asp438Tyr
ENST00000542898.5:c.*46G>T	ENSP00000444615.1:n.*46G>T
ENST00000570511.5:c.1175G>T	ENSP00000458312.1:n.1175G>T
ENST00000572244.5:c.460G>T	ENSP00000461186.1:n.460G>T
ENST00000574583.5:c.542G>T	ENSP00000460269.1:n.542G>T
ENST00000576315.5:c.575G>T	ENSP00000460551.1:n.575G>T
ENST00000621655.1:c.1307G>T	ENSP00000481436.1:n.1307G>T
NM_000243.2:c.1770G>T , LRG_190t1:c.1770G>T	NP_000234.1:p.Leu590=
NM_001198536.1:c.1312G>T	NP_001185465.1:p.Asp438Tyr
XM_017023236.2:c.1767G>T	XP_016878725.1:p.Leu589=
XR_001751903.1:n.2077G>T
NM_000243.3:c.1770G>T MANE Select	NP_000234.1:p.Leu590=
NM_001198536.2:c.1312G>T	NP_001185465.2:p.Asp438Tyr