Canonical Allele Identifier: CA493383499

Gene: MEFV

Linked Data

• ClinVar Variation Id: 1968688
• ClinVar RCV Id: RCV002711980
• dbSNP Id: rs1958893094
• MyVariant Identifiers: chr16:g.3293560G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243560G>A , CM000678.2:g.3243560G>A	GRCh38
NC_000016.9:g.3293560G>A , CM000678.1:g.3293560G>A	GRCh37
NC_000016.8:g.3233561G>A	NCBI36
NG_007871.1:g.18068C>T , LRG_190:g.18068C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1048C>T
ENST00000219596.6:c.1927C>T MANE Select	ENSP00000219596.1:p.Leu643=
ENST00000219596.5:c.1927C>T	ENSP00000219596.1:p.Leu643=
ENST00000339854.8:c.1387C>T	ENSP00000339639.4:p.Leu463=
ENST00000536379.5:c.1294C>T	ENSP00000445079.1:p.Leu432=
ENST00000536980.5:c.*203C>T	ENSP00000444178.1:n.*203C>T
ENST00000537682.5:c.*203C>T	ENSP00000438611.1:n.*203C>T
ENST00000538326.5:c.*552C>T	ENSP00000437486.1:n.*552C>T
ENST00000539145.5:c.848C>T	ENSP00000444471.1:n.848C>T
ENST00000541159.5:c.1469C>T	ENSP00000438711.1:n.1469C>T
ENST00000542898.5:c.*203C>T	ENSP00000444615.1:n.*203C>T
ENST00000570511.5:c.1332C>T	ENSP00000458312.1:n.1332C>T
ENST00000572244.5:c.617C>T	ENSP00000461186.1:n.617C>T
ENST00000574583.5:c.699C>T	ENSP00000460269.1:n.699C>T
ENST00000576315.5:c.732C>T	ENSP00000460551.1:n.732C>T
ENST00000621655.1:c.1464C>T	ENSP00000481436.1:n.1464C>T
NM_000243.2:c.1927C>T , LRG_190t1:c.1927C>T	NP_000234.1:p.Leu643=
NM_001198536.1:c.*131C>T	NP_001185465.1:n.*131C>T
XM_017023236.2:c.1924C>T	XP_016878725.1:p.Leu642=
NM_000243.3:c.1927C>T MANE Select	NP_000234.1:p.Leu643=
NM_001198536.2:c.*131C>T	NP_001185465.2:n.*131C>T